A curated catalogue of human genomic structural variation
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Variant Details
Variant: nsv1001158
Internal ID
18743689
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
Inner
chr2:110097146..110226092
hg38
UCSC
Ensembl
Inner
chr2:110854723..110983669
hg19
UCSC
Ensembl
Inner
chr2:110212012..110340958
hg18
UCSC
Ensembl
Cytoband
2q13
Allele length
Assembly
Allele length
hg38
128947
hg19
128947
hg18
128947
Variant Type
CNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
dgv4044n100
Supporting Variants
nssv3580190
,
nssv3580191
,
nssv3729192
,
nssv3729194
,
nssv3580193
,
nssv3580192
,
nssv3729193
,
nssv3580194
Samples
Known Genes
LINC00116
,
MALL
,
NPHP1
Method
SNP array
Analysis
Affymetrix SNP array copy number analysis
Platform
Affymetrix SNP Array 6.0
Comments
Reference
Coe_et_al_2014
Pubmed ID
25217958
Accession Number(s)
nsv1001158
Frequency
Sample Size
29084
Observed Gain
5
Observed Loss
3
Observed Complex
0
Frequency
n/a
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