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Items: 15

1.

nsv3911811

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
PRPSAP1
,
CACNG1
,
COG1
,
LOC101928447
,
CDK3
,
MIR6783
,
LOC100507002
,
LRRC45
,
ZACN
,
LOC105371771
,
TCAM1P
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48475166
variant
4.

nsv3921455

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
DLX4
,
H1-9P
,
LOC124865
,
EIF4EP2
,
COL1A1
,
ZNF652
,
PDK2
,
TMEM92
,
MIR6165
,
LOC105371818
,
DLX3
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48484810
variant
5.

nsv3903684

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
MIR3185
,
YWHAEP6
,
RN7SL79P
,
ALOX12-AS1
,
MIEN1
,
ALOXE3
,
KIF18B
,
GPATCH8
,
LOC105371551
,
BCL6B
,
LOC101060400
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48467039
variant
6.

nsv3899740

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
P4HB
,
LOC105371808
,
CCT6B
,
TBC1D3F
,
NPEPPS
,
FAM106C
,
ACACA
,
C1QL1
,
MYOCD-AS1
,
MTVR2
,
NFE2L3P2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48463095
variant
7.

nsv3906245

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
MIR21
,
LOC105371899
,
KRT20
,
KRTAP1-4
,
RPL36AP46
,
LOC105371796
,
NCOR1
,
SAMD11P1
,
ST6GALNAC2
,
STX8
,
LASP1NB
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48469600
variant
8.

nsv3907261

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
SMURF2
,
LOC112268199
,
KLHL11
,
RPS2P46
,
SMYD4
,
LOC107985000
,
STAT5B
,
LOC107985086
,
LOC100420853
,
MTCO3P13
,
LOC105371739
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48470616
variant
9.

nsv3914783

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC105371922
,
GJD3
,
LOC101930665
,
KRT15
,
HEXIM2
,
NUDT15P2
,
LHX1
,
LOC107985035
,
DUSP3
,
LINC01476
,
RPL36AP46
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48478138
variant
10.

nsv3909511

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
FOXK2
,
SOCS3-DT
,
AFMID
,
FSCN2
,
NOL11
,
HIGD1B
,
LINC02097
,
B4GALNT2
,
DCAKD
,
LINC02210-CRHR1
,
EIF4EP2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48472866
variant
11.

nsv3913552

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNU6-131P
,
ZNF652
,
BCAS3
,
LOC105376844
,
MIR6779
,
SNX11
,
KRTAP29-1
,
TMEM92-AS1
,
GARS1P1
,
LOC100996660
,
ARHGAP27
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48476907
variant
12.

nsv3911563

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
PLEKHH3
,
CHCT1
,
TRQ-TTG1-1
,
KRTAP4-1
,
FAM187A
,
LOC105371773
,
OR4D2
,
RNU6-826P
,
RN7SL819P
,
TCAM1P
,
SGCA
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48474918
variant
15.

nsv6637543

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
CALCOCO2
,
SUMO2P17
,
PHOSPHO1
,
LOC105371814
,
FLJ40194
,
GNGT2
,
LOC105371811
,
IGF2BP1
,
MIR6129
,
RPL9P28
,
COX6B1P2
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
54356372
variant
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