A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6583



Internal ID15190595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:20876553..20909051hg38UCSC Ensembl
Outerchr14:21344712..21377210hg19UCSC Ensembl
Outerchr14:20414552..20447050hg18UCSC Ensembl
Outerchr14:20414552..20447050hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg386939
hg196939
hg186939
hg176939
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1205
Supporting Variants
SamplesNA12156
Known GenesRNASE3
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)nssv6583
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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