A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6542



Internal ID15190636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31519109..31527748hg38UCSC Ensembl
Outerchr1:31984710..31993349hg19UCSC Ensembl
Outerchr1:31757297..31765936hg18UCSC Ensembl
Outerchr1:31653803..31662442hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg388111
hg198111
hg188111
hg178111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7723
Supporting Variants
SamplesNA12156
Known GenesLOC284551
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)nssv6542
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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