A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253



Internal ID15551144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72623749..72658838hg38UCSC Ensembl
Outerchr8:73535984..73571073hg19UCSC Ensembl
Outerchr8:73698538..73733627hg18UCSC Ensembl
Outerchr8:73698538..73733627hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg385902
hg195902
hg185902
hg175902
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv738
SamplesNA19240
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)nsv6253
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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