A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978771



Internal ID18613974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12016585..12018342hg38UCSC Ensembl
Innerchr19:12127400..12129157hg19UCSC Ensembl
Innerchr19:11988400..11990157hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381758
hg191758
hg181758
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2132165, nssv2132160, nssv2132158, nssv2132164, nssv2132166, nssv2132167, nssv2132163, nssv2132161, nssv2132159, nssv2132162
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF433
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978771
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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