A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004913



Internal ID19094130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88867114..89002373hg38UCSC Ensembl
Innerchr2:89166626..89301870hg19UCSC Ensembl
Innerchr2:88947741..89082985hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38135260
hg19135245
hg18135245
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3934n100
Supporting Variantsnssv3729922
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)nsv1004913
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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