A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207



Internal ID15547793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231841888..231867556hg38UCSC Ensembl
Outerchr2:232706598..232732266hg19UCSC Ensembl
Outerchr2:232414842..232440510hg18UCSC Ensembl
Outerchr2:232532103..232557771hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3810548
hg1910548
hg1810548
hg1710548
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10272, nssv7627, nssv11032, nssv1576
SamplesNA12156, NA18956, NA15510, NA19240
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)nsv3207
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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