A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1991



Internal ID15541274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:33211513..33262978hg38UCSC Ensembl
Outerchr12:33364448..33415913hg19UCSC Ensembl
Outerchr12:33255715..33307180hg18UCSC Ensembl
Outerchr12:33255715..33307180hg17UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3851466
hg1951466
hg1851466
hg1751466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv669
Supporting Variants
SamplesNA18555
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)nssv1991
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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