A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700003



Internal ID15089969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:224714352..224834158hg38UCSC Ensembl
Innerchr1:224902054..225021860hg19UCSC Ensembl
Innerchr1:222968677..223088483hg18UCSC Ensembl
Innerchr1:221208789..221328595hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38119807
hg19119807
hg18119807
hg17119807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524125
Supporting Variants
Samples
Known GenesCNIH3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700003
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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