A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2630



Internal ID15540482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166525208..166554209hg38UCSC Ensembl
Outerchr6:166938696..166967697hg19UCSC Ensembl
Outerchr6:166858686..166887687hg18UCSC Ensembl
Outerchr6:166909107..166938108hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3811024
hg1911024
hg1811024
hg1711024
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5591
Supporting Variants
SamplesNA18555
Known GenesRPS6KA2
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)nssv2630
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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