A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013181



Internal ID19102399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:125694062..126489388hg38UCSC Ensembl
Innerchr2:126451639..127246965hg19UCSC Ensembl
Innerchr2:126168109..126963435hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38795327
hg19795327
hg18795327
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580715
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013181
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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