A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5373



Internal ID15550176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:82239197..82276998hg38UCSC Ensembl
Outerchr6:82948914..82986715hg19UCSC Ensembl
Outerchr6:83005633..83043434hg18UCSC Ensembl
Outerchr6:83005633..83043434hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg388748
hg198748
hg188748
hg178748
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3452, nssv6076, nssv563, nssv4928, nssv9892, nssv2601, nssv10509
SamplesNA18507, NA12156, NA12878, NA18956, NA18555, NA19240, NA19129
Known GenesIBTK
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)nsv5373
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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