A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4922



Internal ID15542918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:68275670..68302273hg38UCSC Ensembl
Outerchr6:68985562..69012165hg19UCSC Ensembl
Outerchr6:69042283..69068886hg18UCSC Ensembl
Outerchr6:69042283..69068886hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3812678
hg1912678
hg1812678
hg1712678
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5336
Supporting Variants
SamplesNA19129
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)nssv4922
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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