A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524102



Internal ID15451395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77994127..78334887hg38UCSC Ensembl
Innerchr2:78221253..78562013hg19UCSC Ensembl
Innerchr2:78074761..78415521hg18UCSC Ensembl
Innerchr2:78132908..78473668hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38340761
hg19340761
hg18340761
hg17340761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699977
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524102
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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