A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010200



Internal ID19099418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:123058750..123129634hg38UCSC Ensembl
Innerchr2:123816326..123887210hg19UCSC Ensembl
Innerchr2:123532796..123603680hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3870885
hg1970885
hg1870885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580705
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)nsv1010200
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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