A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516827



Internal ID15097434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:8330828..8363450hg38UCSC Ensembl
Innerchr1:8390888..8423510hg19UCSC Ensembl
Innerchr1:8313475..8346097hg18UCSC Ensembl
Innerchr1:8325154..8357776hg17UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3832623
hg1932623
hg1832623
hg1732623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv693424, nssv671511, nssv693483, nssv657128, nssv654276, nssv656941, nssv684816, nssv685632, nssv679037
Samples
Known GenesRERE, SLC45A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516827
Frequency
Sample Size2026
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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