A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3007



Internal ID15541536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:5483857..5517762hg38UCSC Ensembl
Outerchr2:5623989..5657894hg19UCSC Ensembl
Outerchr2:5541440..5575345hg18UCSC Ensembl
Outerchr2:5574587..5608492hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg386116
hg196116
hg186116
hg176116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2586
Supporting Variants
SamplesNA18555
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)nssv3007
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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