A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697495



Internal ID15087461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143904439..143944186hg38UCSC Ensembl
Innerchr8:144978607..145018354hg19UCSC Ensembl
Innerchr8:145050595..145090342hg18UCSC Ensembl
Innerchr8:145050595..145090342hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3839748
hg1939748
hg1839748
hg1739748
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515809
Supporting Variants
Samples
Known GenesPLEC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697495
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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