A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9278



Internal ID15193543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10413778..10460300hg38UCSC Ensembl
Outerchr12:10566377..10612899hg19UCSC Ensembl
Outerchr12:10457644..10504166hg18UCSC Ensembl
Outerchr12:10457644..10504166hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3846523
hg1946523
hg1846523
hg1746523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv606
Supporting Variants
SamplesNA18517
Known GenesKLRC1, KLRC2, 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)nssv9278
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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