A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv567



Internal ID15545344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:84967764..85001524hg38UCSC Ensembl
Outerchr6:85677482..85711242hg19UCSC Ensembl
Outerchr6:85734201..85767961hg18UCSC Ensembl
Outerchr6:85734201..85767961hg17UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg387234
hg197234
hg187234
hg177234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5381
Supporting Variants
SamplesNA19240
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)nssv567
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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