A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974578



Internal ID18609789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:52936787..52938399hg38UCSC Ensembl
Innerchr15:53228984..53230596hg19UCSC Ensembl
Innerchr15:51016276..51017888hg18UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg381613
hg191613
hg181613
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2024477, nssv2024485, nssv2024483, nssv2024478, nssv2024484, nssv2024482, nssv2024480, nssv2024479, nssv2024476, nssv2024481
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974578
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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