A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv597



Internal ID15545281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160756668..160761808hg38UCSC Ensembl
Outerchr6:161177700..161182840hg19UCSC Ensembl
Outerchr6:161097690..161102830hg18UCSC Ensembl
Outerchr6:161148111..161153251hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg387957
hg197957
hg187957
hg177957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5572
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)nssv597
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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