A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981974



Internal ID18617170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:109470027..109471906hg38UCSC Ensembl
Innerchr8:110482256..110484135hg19UCSC Ensembl
Innerchr8:110551432..110553311hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg381880
hg191880
hg181880
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2515671, nssv2515669, nssv2515675, nssv2515678, nssv2515673, nssv2515674, nssv2515672, nssv2515677, nssv2515670, nssv2515676
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPKHD1L1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981974
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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