A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6000



Internal ID15537864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:62667315..62699336hg38UCSC Ensembl
Outerchr5:61963142..61995163hg19UCSC Ensembl
Outerchr5:61998898..62030919hg18UCSC Ensembl
Outerchr5:61998898..62030919hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg387418
hg197418
hg187418
hg177418
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4859
Supporting Variants
SamplesNA12156
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)nssv6000
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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