A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1975



Internal ID15194572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2239040..2263327hg38UCSC Ensembl
Outerchr12:2348206..2372493hg19UCSC Ensembl
Outerchr12:2218467..2242754hg18UCSC Ensembl
Outerchr12:2218467..2242754hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387326
hg197326
hg187326
hg177326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575
Supporting Variants
SamplesNA18555
Known GenesCACNA1C
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)nssv1975
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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