A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695071



Internal ID15431723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:233552495..233565550hg38UCSC Ensembl
Innerchr1:233688241..233701296hg19UCSC Ensembl
Innerchr1:231754864..231767919hg18UCSC Ensembl
Innerchr1:229994976..230008031hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3813056
hg1913056
hg1813056
hg1713056
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522289
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695071
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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