A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1981



Internal ID15194578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10417022..10439827hg38UCSC Ensembl
Outerchr12:10569621..10592426hg19UCSC Ensembl
Outerchr12:10460888..10483693hg18UCSC Ensembl
Outerchr12:10460888..10483693hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3822806
hg1922806
hg1822806
hg1722806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv606
Supporting Variants
SamplesNA18555
Known GenesKLRC2, KLRC3
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)nssv1981
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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