A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5475



Internal ID15197311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31497535..31508260hg38UCSC Ensembl
Outerchr1:31970377..31973861hg19UCSC Ensembl
Outerchr1:31742964..31746448hg18UCSC Ensembl
Outerchr1:31639470..31642954hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg386726
hg196726
hg186726
hg176726
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7723
Supporting Variants
SamplesNA19129
Known GenesLOC149086
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)nssv5475
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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