A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2595



Internal ID15547158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:6552992..6605919hg38UCSC Ensembl
Outerchr2:6693124..6746051hg19UCSC Ensembl
Outerchr2:6610575..6663502hg18UCSC Ensembl
Outerchr2:6643722..6696649hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3852928
hg1952928
hg1852928
hg1752928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9563
SamplesNA18507
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)nsv2595
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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