A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2590



Internal ID15547153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:5967707..5988987hg38UCSC Ensembl
Outerchr2:6107839..6129119hg19UCSC Ensembl
Outerchr2:6025290..6046570hg18UCSC Ensembl
Outerchr2:6058437..6079717hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3821281
hg1921281
hg1821281
hg1721281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4649
SamplesNA19129
Known GenesLINC01105, LOC400940
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)nsv2590
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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