A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1085



Internal ID15198059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55318799..55338157hg38UCSC Ensembl
Outerchr12:55712583..55731941hg19UCSC Ensembl
Outerchr12:53998850..54018208hg18UCSC Ensembl
Outerchr12:53998850..54018208hg17UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg388370
hg198370
hg188370
hg178370
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv718
Supporting Variants
SamplesNA19240
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)nssv1085
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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