A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6996



Internal ID15536868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:19463777..19496152hg38UCSC Ensembl
Outerchr3:19505269..19537644hg19UCSC Ensembl
Outerchr3:19480273..19512648hg18UCSC Ensembl
Outerchr3:19480273..19512648hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg386900
hg196900
hg186900
hg176900
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3717
Supporting Variants
SamplesNA12156
Known GenesKCNH8
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)nssv6996
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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