A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3491021



Internal ID18731976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248661824..248703931hg38UCSC Ensembl
Innerchr1:248825125..248867232hg19UCSC Ensembl
Innerchr1:246891748..246933855hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3842108
hg1942108
hg1842108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011254
Supporting Variants
Samples
Known GenesOR14I1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3491021
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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