A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2571



Internal ID15540547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13518453..13526976hg38UCSC Ensembl
Outerchr6:13518685..13527208hg19UCSC Ensembl
Outerchr6:13626664..13635187hg18UCSC Ensembl
Outerchr6:13626664..13635187hg17UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg387004
hg197004
hg187004
hg177004
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5206
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2571
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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