A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv640



Internal ID15551305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:22394055..22441574hg38UCSC Ensembl
Outerchr12:22546989..22594508hg19UCSC Ensembl
Outerchr12:22438256..22485775hg18UCSC Ensembl
Outerchr12:22438256..22485775hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3847520
hg1947520
hg1847520
hg1747520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5411, nssv1987, nssv1067, nssv10856, nssv6497, nssv4017
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)nsv640
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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