A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712573



Internal ID16006529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40552283..40560611hg38UCSC Ensembl
Innerchr1:41017955..41026283hg19UCSC Ensembl
Innerchr1:40790542..40798870hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg388329
hg198329
hg188329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546069
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712573
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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