A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10030



Internal ID15542767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:73126553..73135131hg38UCSC Ensembl
Outerchr1:73592236..73600814hg19UCSC Ensembl
Outerchr1:73364824..73373402hg18UCSC Ensembl
Outerchr1:73304257..73312835hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg388220
hg198220
hg188220
hg178220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1387
Supporting Variants
SamplesNA18956
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv10030
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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