A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv605



Internal ID15198580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170133920..170167984hg38UCSC Ensembl
Outerchr6:170449144..170483208hg19UCSC Ensembl
Outerchr6:170291069..170325133hg18UCSC Ensembl
Outerchr6:170366776..170400840hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg386926
hg196926
hg186926
hg176926
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5602
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)nssv605
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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