A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2581



Internal ID15547144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:3169951..3196089hg38UCSC Ensembl
Outerchr2:3173722..3199860hg19UCSC Ensembl
Outerchr2:3152729..3178867hg18UCSC Ensembl
Outerchr2:4712005..4738143hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3810212
hg1910212
hg1810212
hg1710212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1473, nssv11007, nssv2248, nssv5771, nssv10205, nssv6812, nssv4389
SamplesNA12156, NA12878, NA18956, NA15510, NA18555, NA19240, NA19129
Known GenesTSSC1
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)nsv2581
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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