A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976092



Internal ID18264613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24446640..24451875hg38UCSC Ensembl
Innerchr13:25020778..25026013hg19UCSC Ensembl
Innerchr13:23918778..23924013hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg385236
hg195236
hg185236
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1956142, nssv1956145, nssv1956138, nssv1956146, nssv1956139, nssv1956140, nssv1956143, nssv1956137, nssv1956144, nssv1956141
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPARP4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976092
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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