A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606



Internal ID15204245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10400033..10460300hg38UCSC Ensembl
Outerchr12:10552632..10612899hg19UCSC Ensembl
Outerchr12:10443899..10504166hg18UCSC Ensembl
Outerchr12:10443899..10504166hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3860268
hg1960268
hg1860268
hg1760268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1981, nssv5402, nssv9278
SamplesNA18517, NA19129, NA18555
Known GenesKLRC1, KLRC2, 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)nsv606
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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