A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6538



Internal ID15537325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:126282572..126314232hg38UCSC Ensembl
Outerchr12:126767118..126798778hg19UCSC Ensembl
Outerchr12:125333071..125364731hg18UCSC Ensembl
Outerchr12:125291998..125323658hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg387776
hg197776
hg187776
hg177776
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv924
Supporting Variants
SamplesNA12156
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)nssv6538
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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