A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971342



Internal ID18606562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:100923589..100924905hg38UCSC Ensembl
Innerchr8:101935817..101937133hg19UCSC Ensembl
Innerchr8:102004993..102006309hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381317
hg191317
hg181317
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2515071, nssv2515072, nssv2515074, nssv2515069, nssv2515075, nssv2515076, nssv2515068, nssv2515077, nssv2515073, nssv2515070
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesYWHAZ
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971342
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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