A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5402



Internal ID15197400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10400033..10445885hg38UCSC Ensembl
Outerchr12:10552632..10598484hg19UCSC Ensembl
Outerchr12:10443899..10489751hg18UCSC Ensembl
Outerchr12:10443899..10489751hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3845853
hg1945853
hg1845853
hg1745853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv606
Supporting Variants
SamplesNA19129
Known GenesKLRC2, KLRC3, KLRC4, KLRC4-KLRK1
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)nssv5402
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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