A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv686811



Internal ID15076777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238132067..238174335hg38UCSC Ensembl
Innerchr2:239040708..239082976hg19UCSC Ensembl
Innerchr2:238705447..238747715hg18UCSC Ensembl
Innerchr2:238822708..238864976hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3842269
hg1942269
hg1842269
hg1742269
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517412
Supporting Variants
Samples
Known GenesESPNL, ILKAP, KLHL30
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv686811
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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