A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6255



Internal ID15551146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72855846..72911842hg38UCSC Ensembl
Outerchr8:73768081..73824077hg19UCSC Ensembl
Outerchr8:73930635..73986631hg18UCSC Ensembl
Outerchr8:73930635..73986631hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3855997
hg1955997
hg1855997
hg1755997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6228, nssv739, nssv9463, nssv9753, nssv1753, nssv3660, nssv5103
SamplesNA18507, NA12156, NA12878, NA18555, NA18517, NA19240, NA19129
Known GenesKCNB2
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)nsv6255
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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