A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4471



Internal ID15192512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:151593688..151642941hg38UCSC Ensembl
Outerchr2:152450202..152499455hg19UCSC Ensembl
Outerchr2:152158448..152207701hg18UCSC Ensembl
Outerchr2:152275710..152324963hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3849254
hg1949254
hg1849254
hg1749254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2974
Supporting Variants
SamplesNA12878
Known GenesNEB
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)nssv4471
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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