A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974584



Internal ID18609795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:59206826..59208117hg38UCSC Ensembl
Innerchr15:59499025..59500316hg19UCSC Ensembl
Innerchr15:57286317..57287608hg18UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg381292
hg191292
hg181292
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2025366, nssv2025365, nssv2025363, nssv2025368, nssv2025367, nssv2025364, nssv2025370, nssv2025369, nssv2025362, nssv2025361
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLDHAL6B, MYO1E
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974584
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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