A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702430



Internal ID15439082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:120514073..120523027hg38UCSC Ensembl
Innerchr2:121271649..121280603hg19UCSC Ensembl
Innerchr2:120988119..120997073hg18UCSC Ensembl
Innerchr2:120987879..120996833hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg388955
hg198955
hg188955
hg178955
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526169
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702430
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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