A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694242



Internal ID15430894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:37724953..37726624hg38UCSC Ensembl
Innerchr1:38190625..38192296hg19UCSC Ensembl
Innerchr1:37963212..37964883hg18UCSC Ensembl
Innerchr1:37859718..37861389hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381672
hg191672
hg181672
hg171672
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519553
Supporting Variants
Samples
Known GenesEPHA10
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694242
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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