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Items: 20

1.

nsv3916249

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
H3P40
,
EEF1B2P1
,
MTHFS
,
HIGD2B
,
MIR4715
,
CPEB1-AS1
,
LOC440311
,
DNAAF4-CCPG1
,
EPB42
,
PWAR4
,
LOC101929129
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48479604
variant
2.

nsv3919468

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNU6-18P
,
GOLGA8K
,
LOC105370861
,
DNAAF4
,
TMOD3
,
HSP90B2P
,
TMED3
,
LOC105370752
,
ADPGK
,
MIR184
,
RNA5SP392
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48482823
variant
3.

nsv3903255

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RN7SKP101
,
SQOR
,
RNU6-953P
,
LOC105370805
,
ELOCP2
,
CAPN3
,
STARD9
,
SERF2-C15ORF63
,
EIF3J-DT
,
MIR4713
,
TGM7
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48466610
variant
4.

nsv3900281

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
MYZAP
,
JMJD7
,
GABPB1-AS1
,
ANXA2
,
PRTG
,
SNORD116-8
,
ST20
,
OR4H6P
,
LUNAR1
,
LOC101927310
,
PGBD4
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48463636
variant
5.

nsv3913581

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
MIR4513
,
LOC727751
,
MIR1179
,
MYO5C
,
PGPEP1L
,
ARHGAP11B
,
DUOX2
,
GREM1-AS1
,
RSL24D1
,
ADAMTS7P1
,
CALML4
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48476936
variant
6.

nsv3904086

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
TMEM202
,
SNORD115-28
,
LOC107984805
,
LOC105370802
,
SNORD116-7
,
SALRNA3
,
NR2E3
,
LINC00928
,
SERF2-C15ORF63
,
INSYN1-AS1
,
DUOXA2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48467441
variant
7.

nsv3905138

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
FES
,
OR4H6BP
,
LINC01582
,
SNORD115-5
,
MIR9-3HG
,
KIF23-AS1
,
RNA5SP402
,
SNX33
,
PRC1-AS1
,
BMS1P16
,
LOC105370934
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48468493
variant
8.

nsv3892955

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
FAM81A
,
LOC105370884
,
LOC107984784
,
RNU1-77P
,
UBR1
,
MIR4509-2
,
MIR4713HG
,
NGRN
,
RNU6-380P
,
MFAP1
,
RNU6-549P
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48456310
variant
9.

nsv3876912

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNU6-953P
,
LOC105370805
,
LOC100129540
,
PDIA3
,
TTBK2
,
RNU7-111P
,
SEC11A
,
OAZ2
,
LINC01169
,
RGMA
,
FES
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48440267
variant
10.

nsv3899559

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
CILP
,
HDDC3
,
HMGN1P26
,
MTND5P40
,
UBE2Q2P16
,
SLC24A1
,
HYKK
,
RN7SL438P
,
MAN2C1
,
LOC727751
,
LOC105371006
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48462914
variant
11.

nsv4729715

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
SPTBN5
,
RNA5SP393
,
MIR4310
,
PLA2G4E-AS1
,
MIR626
,
MGA
,
LOC105370793
,
PLA2G4F
,
JMJD7-PLA2G4B
,
PLA2G4E
,
PLA2G4B
,
See more...
Location information:
Clinical significance:
Likely benign
ID:
50373352
variant
12.

nsv3918770

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
SNRPCP18
,
SNORD116-30
,
RPS20P34
,
ARNT2-DT
,
DPPA5P2
,
UBAP1L
,
SNORD115-44
,
FAM138E
,
IQCH
,
PRELID1P4
,
LOC105370789
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
48482125
variant
13.

nsv3918644

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
SNORD116-23
,
UBE2Q2P6
,
LOC105370946
,
GOLGA8R
,
LOC102723985
,
LOC105370923
,
MIR8067
,
MTND5P40
,
CTXN2
,
AP4E1
,
LOC105370829
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
48481999
variant
14.

nsv3911945

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
HDDC3
,
TRK-CTT16-1
,
KIF23
,
OIP5-AS1
,
LOC101928988
,
SNORD116-19
,
RNA5SP392
,
LOC100288637
,
UBE2Q2P2
,
ZFYVE19
,
LOC112268143
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
48475300
variant
15.

nsv3915210

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RPL21P113
,
LOC112268152
,
GOLGA6C
,
RPL21P117
,
STRCP1
,
LOC107987223
,
RYR3
,
MYO1E
,
LOC105370867
,
ANKRD34C
,
PLCB2
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
48478565
variant
16.

nsv3922157

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
GCHFR
,
SPPL2A
,
ADAMTSL3
,
KRT8P9
,
MINAR1
,
RNU6-745P
,
ST20-MTHFS
,
ACSBG1
,
GAPDHP43
,
TLN2
,
CCDC33
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
48485512
variant
17.

nsv5380758

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC105370794
,
HNRNPA1P45
,
TGM5
,
FAM98B
,
ANXA2
,
EIF3J
,
LOC105370840
,
ZNF710-AS1
,
LOC390600
,
LOC101929408
,
C15orf40
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
51636015
variant
18.

nsv3924352

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
CAPN3
,
TMEM87A
,
PLA2G4E
,
PLA2G4B
,
EHD4-AS1
,
LOC105370794
,
EHD4
,
VPS39
,
PLA2G4F
,
GANC
,
PLA2G4D
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
48487707
variant
19.

nsv3919796

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
GANC
,
PLA2G4D
,
VPS39
,
PLA2G4E-AS1
,
MIR4310
,
TMEM87A
,
MIR627
,
SPTBN5
,
PLA2G4E
,
EHD4-AS1
,
EHD4
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
48483151
variant
20.

nsv3894137

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
EHD4
,
EHD4-AS1
,
PLA2G4B
,
PLA2G4E
,
PLA2G4D
,
JMJD7
,
LOC105370792
,
JMJD7-PLA2G4B
,
LOC105370793
,
MIR4310
,
RNA5SP393
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
48457492
variant
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