A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2160905



Internal ID17421423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54804738..54870356hg38UCSC Ensembl
Innerchr19:55316193..55381812hg19UCSC Ensembl
Innerchr19:60008005..60073624hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3865619
hg1965620
hg1865620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978853
Supporting Variants
SamplesHGDP00542
Known GenesKIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2160905
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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