A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2580



Internal ID15547143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:4712841..4761192hg38UCSC Ensembl
Outerchr2:4760431..4808782hg19UCSC Ensembl
Outerchr2:4738306..4786657hg18UCSC Ensembl
Outerchr2:4253800..4302151hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3848352
hg1948352
hg1848352
hg1748352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1472, nssv4388, nssv5770, nssv6811, nssv2247, nssv10204
SamplesNA12156, NA12878, NA18956, NA18555, NA19240, NA19129
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)nsv2580
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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