A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978853



Internal ID18267370
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 StatusM
Merged Variants
Supporting Variantsnssv2160899, nssv2160908, nssv2160907, nssv2160903, nssv2160900, nssv2160901, nssv2160906, nssv2160905, nssv2160902, nssv2160904
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978853
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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