A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3696766



Internal ID18648361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:8252522..8485210hg38UCSC Ensembl
Innerchr1:8312582..8545270hg19UCSC Ensembl
Innerchr1:8235169..8467857hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38232689
hg19232689
hg18232689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012977
Supporting Variants
Samples
Known GenesRERE, SLC45A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3696766
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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