A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1999



Internal ID15541282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:57526682..57557939hg38UCSC Ensembl
Outerchr12:57920465..57951722hg19UCSC Ensembl
Outerchr12:56206732..56237989hg18UCSC Ensembl
Outerchr12:56206732..56237989hg17UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg388772
hg198772
hg188772
hg178772
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv724
Supporting Variants
SamplesNA18555
Known GenesDCTN2, KIF5A, MBD6
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)nssv1999
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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