A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705799



Internal ID15442451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:100806846..100810988hg38UCSC Ensembl
Innerchr1:101272402..101276544hg19UCSC Ensembl
Innerchr1:101044990..101049132hg18UCSC Ensembl
Innerchr1:100984423..100988565hg17UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg384143
hg194143
hg184143
hg174143
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522441
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705799
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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