A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990642



Internal ID18896189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10416462..10447323hg38UCSC Ensembl
Outerchr12:10569061..10599922hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3830862
hg1930862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138097
Supporting Variants
SamplesKWS2
Known GenesKLRC1, KLRC2, KLRC3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990642
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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