A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1916031



Internal ID17397578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10421334..10430986hg38UCSC Ensembl
Innerchr12:10573933..10583585hg19UCSC Ensembl
Innerchr12:10465200..10474852hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg389653
hg199653
hg189653
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv983281
Supporting Variants
SamplesHGDP00521
Known GenesKLRC2
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)nssv1916031
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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