A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv670782



Internal ID15060748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238127212..238167171hg38UCSC Ensembl
Innerchr2:239035853..239075812hg19UCSC Ensembl
Innerchr2:238700592..238740551hg18UCSC Ensembl
Innerchr2:238817853..238857812hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3839960
hg1939960
hg1839960
hg1739960
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517412
Supporting Variants
Samples
Known GenesESPNL, KLHL30
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv670782
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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