A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2017



Internal ID15194614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122705485..122732302hg38UCSC Ensembl
Outerchr12:123190032..123216849hg19UCSC Ensembl
Outerchr12:121755985..121782802hg18UCSC Ensembl
Outerchr12:121714912..121741729hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3813211
hg1913211
hg1813211
hg1713211
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv913
Supporting Variants
SamplesNA18555
Known GenesHCAR1, HCAR3
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)nssv2017
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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