A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1916130



Internal ID17414225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10435206..10447816hg38UCSC Ensembl
Innerchr12:10587805..10600415hg19UCSC Ensembl
Innerchr12:10479072..10491682hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3812611
hg1912611
hg1812611
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv975448
Supporting Variants
SamplesHGDP00542
Known GenesKLRC1, KLRC2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1916130
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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