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Items: 19

1.

nsv7095246

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
PKLR
Location information:
Clinical significance:
Pathogenic
ID:
55275435
variant
2.

nsv7095704

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
PKLR
Location information:
Clinical significance:
Pathogenic
ID:
55275893
variant
3.

nsv4451749

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
FDPS
,
HCN3
,
RUSC1-AS1
,
PKLR
,
RUSC1
Location information:
Clinical significance:
Pathogenic
ID:
49617384
variant
4.

nsv3912840

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
CRB1
,
STX6
,
RPS23P9
,
SLAMF1
,
CRTC2
,
RN7SL372P
,
IL6R
,
RNU6-693P
,
RPL35AP5
,
C1orf105
,
ATP8B2
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48476195
variant
5.

nsv3906070

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
PBXIP1
,
ZBTB7B
,
SCAMP3
,
EFNA4
,
HMGN2P18
,
SLC50A1
,
THBS3-AS1
,
HCN3
,
PYGO2-AS1
,
LENEP
,
MUC1
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48469425
variant
6.

nsv3877365

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
MARK1
,
LINC02766
,
FDPS
,
PRUNE1
,
GJB4
,
RN7SL653P
,
PPIEL
,
CRB1
,
SELENBP1
,
LBR
,
CHML
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48440720
variant
7.

nsv3885206

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
SNAP47
,
STK40
,
RNU6-750P
,
LINC01138
,
MIR4632
,
LOC107985100
,
EIF2D
,
SEPTIN7P13
,
RAB13
,
LOC107985524
,
DR1
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48448561
variant
8.

nsv3884414

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
RNU1-153P
,
MIR3917
,
LOC105378793
,
CCDC190
,
RPL29P6
,
RUNX3-AS1
,
MIXL1
,
LCE1B
,
NAXE
,
PDC-AS1
,
BNIPL
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48447769
variant
9.

nsv3918947

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
LOC101060227
,
LINC01720
,
LOC105371693
,
LINC01350
,
DCST1
,
PTPN2P1
,
SCYL3
,
GYG2P2
,
KIAA1614-AS1
,
KISS1
,
LOC105371610
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48482302
variant
10.

nsv3900459

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
HORMAD1
,
BCAN-AS1
,
OR10K2
,
TSTD1
,
VHLL
,
S100A5
,
MIR1295B
,
RPS11P3
,
GOLPH3L
,
GPR52
,
RNU5F-6P
,
See more...
Location information:
Clinical significance:
Pathogenic
ID:
48463814
variant
11.

nsv3917016

ID:
48480371
variant
15.

nsv5381285

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
DCST1
,
NUDT17
,
THEM5
,
RPS15AP12
,
LOC100271842
,
LOC100216488
,
LOC107985464
,
LOC105371438
,
GORAB
,
B4GALT3
,
SRGAP2D
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
51636542
variant
16.

nsv6310678

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
PRPF3
,
KHDC4
,
S100A7
,
RN7SL444P
,
S100A10
,
SPRR1B
,
LOC284620
,
LINC00302
,
KCNN3
,
ADAMTSL4-AS1
,
LOC105371446
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
53674549
variant
18.

nsv3892457

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
DAP3P1
,
GBA1LP
,
MUC1
,
RUSC1
,
CLK2
,
LOC100505728
,
TRIM46
,
SCAMP3
,
FDPS
,
RNU6-1297P
,
MIR555
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
48455812
variant
19.

nsv3890833

Variant type:
copy number variation
Associated study:
nstd102
Organism:
human
Genes(s) in region:
CLK2
,
DCST2
,
TRIM46
,
GBA1LP
,
RUSC1
,
KRTCAP2
,
MUC1
,
ZBTB7B
,
SCAMP3
,
DCST1-AS1
,
RNU6-1297P
,
See more...
Location information:
Clinical significance:
Uncertain significance
ID:
48454188
variant
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