A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971309



Internal ID18606529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:54045457..54048268hg38UCSC Ensembl
Innerchr8:54958017..54960828hg19UCSC Ensembl
Innerchr8:55120570..55123381hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg382812
hg192812
hg182812
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2503959, nssv2503962, nssv2503957, nssv2503956, nssv2503953, nssv2503955, nssv2503958, nssv2503961, nssv2503960, nssv2503954
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLYPLA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971309
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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