A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6507



Internal ID15190671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55312572..55335817hg38UCSC Ensembl
Outerchr12:55706356..55729601hg19UCSC Ensembl
Outerchr12:53992623..54015868hg18UCSC Ensembl
Outerchr12:53992623..54015868hg17UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg388498
hg198498
hg188498
hg178498
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv718
Supporting Variants
SamplesNA12156
Known GenesOR6C1, OR6C3
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)nssv6507
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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