A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984063



Internal ID18619253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43984660..43990034hg38UCSC Ensembl
Innerchr15:44276858..44282232hg19UCSC Ensembl
Innerchr15:42064150..42069524hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg385375
hg195375
hg185375
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2021937, nssv2021936, nssv2021938, nssv2021931, nssv2021932, nssv2021930, nssv2021934, nssv2021935, nssv2021929, nssv2021933
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFRMD5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984063
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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