A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2163



Internal ID15546726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81412129..81446240hg38UCSC Ensembl
Outerchr17:79385929..79413266hg19UCSC Ensembl
Outerchr17:77000524..77027861hg18UCSC Ensembl
Outerchr17:77000524..77027861hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg388457
hg198457
hg188457
hg178457
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10137, nssv5684, nssv2186, nssv4292, nssv6734, nssv9548, nssv10980, nssv1387
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA19240, NA19129
Known GenesBAHCC1
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)nsv2163
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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