A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699139



Internal ID15089105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220753502..220782670hg38UCSC Ensembl
Innerchr1:220926844..220956012hg19UCSC Ensembl
Innerchr1:218993467..219022635hg18UCSC Ensembl
Innerchr1:217315239..217344407hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3829169
hg1929169
hg1829169
hg1729169
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523389
Supporting Variants
Samples
Known GenesMARC2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699139
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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