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Items: 20

1.

nsv7096917

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
AUP1
,
LOXL3
,
HTRA2
,
DQX1
Location information:
Clinical significance:
Pathogenic
ID:
55277106
variant
2.

nsv3910630

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
DAZAP2P1
,
RPL36AP16
,
TRIM51JP
,
LOC105373608
,
LOC105373903
,
LOC105374690
,
C2orf81
,
LOC105377627
,
LOC105373714
,
C2orf78
,
ELF2P4
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48473985
variant
3.

nsv6634330

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
CYP1B1-AS1
,
LOC107985771
,
C2orf15
,
APPAT
,
LINC01799
,
PNO1
,
CENPO
,
LOC102724744
,
RN7SL470P
,
TRQ-TTG5-1
,
LOC105374831
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
54348633
variant
4.

nsv3877742

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNU6-561P
,
M1AP
,
MTND6P7
,
VAMP5
,
SPMIP9
,
RNU6-674P
,
TOR1BP1
,
RN7SKP83
,
BOLA3-DT
,
LOC105374837
,
CYTOR
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48441097
variant
5.

nsv3886532

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNU6-561P
,
VAMP5
,
M1AP
,
CYCSP6
,
TOR1BP1
,
RNU6-674P
,
TAF13P2
,
MTND6P7
,
KRT18P26
,
SPMIP9
,
RNU6-542P
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48449887
variant
8.

nsv6315390

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC112268439
,
RNA5SP116
,
FAP
,
EIF3EP3
,
LOC107985821
,
LOC105373602
,
SLC44A3P1
,
LOC100420775
,
LOC100506405
,
RGPD6
,
FAR2P2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
53680337
variant
9.

nsv3874648

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
IGKV2OR2-10
,
LOC105374848
,
RN7SL313P
,
MIR3131
,
LOC107985957
,
RN7SKP179
,
EPCAM
,
RNU6-282P
,
LOC102723825
,
BOK
,
CD8B
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48438003
variant
10.

nsv3885544

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNU6-674P
,
KANSL3
,
KHK
,
TM4SF20
,
ABCB11
,
BAZ2B-AS1
,
LOC105373506
,
ELOCP21
,
LOC105373612
,
LOC107985854
,
LOC107985960
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48448899
variant
11.

nsv3882615

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
MTND2P22
,
LOC112268410
,
ASIC4
,
LOC107985792
,
HAAO
,
RPL28P2
,
TRE-CTC7-1
,
RNU6-915P
,
CCDC138
,
LOC107986001
,
IGKV3D-7
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48445970
variant
12.

nsv3916821

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
NAGK
,
NRXN1-DT
,
TEX261
,
LOC105374823
,
MPHOSPH10
,
LOC105374591
,
RNU6-674P
,
ELOCP21
,
LOC105374697
,
GNA13P1
,
RNF181
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48480176
variant
13.

nsv3900298

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
MIR1285-2
,
SERTAD2
,
ELOCP21
,
LOC105374785
,
RNU6-508P
,
NAGK
,
DNMT3AP1
,
RN7SL635P
,
HK2
,
RPL21P37
,
RNU6-542P
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48463653
variant
14.

nsv3883931

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LINC01888
,
RNU7-64P
,
TCF7L1-IT1
,
LOC105374781
,
REG3G
,
REG3A
,
RPL39P15
,
RPS10P9
,
DNAJB12P1
,
LINC02934
,
LOC105374827
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48447286
variant
15.

nsv6314726

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
ACTG2
,
ACYP2
,
ADD2
,
ADRA2B
,
BIN1
,
ANXA4
,
ATP1B3P1
,
ATP5F1BP1
,
ATP6V1B1
,
AUP1
,
BCYRN1
,
See more...
Location information:
Clinical significance:
Likely pathogenic
ID:
53678749
variant
16.

nsv3909450

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
AUP1
,
DCTN1
,
DOK1
,
HK2
,
TLX2
,
RTKN
,
TACR1
,
MOGS
,
SEMA4F
,
WBP1
,
HTRA2
,
See more...
Location information:
Clinical significance:
Likely pathogenic
ID:
48472805
variant
17.

nsv3903805

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC101927723
,
SANBR
,
TTC39DP
,
LOC105374786
,
RNU6-939P
,
MIR558
,
LOC112268413
,
KRTCAP2P1
,
CGREF1
,
LOC105369167
,
LOC105373458
,
See more...
Location information:
Clinical significance:
Benign
ID:
48467160
variant
18.

nsv7098872

ID:
55279505
variant
19.

nsv7096520

ID:
55276709
variant
20.

nsv3893335

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
TTC31
,
TLX2
,
LBX2-AS1
,
RPS28P5
,
MIR5000
,
PCGF1
,
INO80B-WBP1
,
HK2
,
TACR1
,
CCDC142
,
RTKN
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
48456690
variant
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