A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6992



Internal ID15190186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:4766787..4793734hg38UCSC Ensembl
Outerchr3:4808471..4835418hg19UCSC Ensembl
Outerchr3:4783471..4810418hg18UCSC Ensembl
Outerchr3:4783471..4810418hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3812484
hg1912484
hg1812484
hg1712484
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3682
Supporting Variants
SamplesNA12156
Known GenesITPR1
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)nssv6992
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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