A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946475



Internal ID18246639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:162782978..162821907hg38UCSC Ensembl
Innerchr1:162752768..162791697hg19UCSC Ensembl
Innerchr1:161019392..161058321hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3838930
hg1938930
hg1838930
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1803530, nssv1803536, nssv1803537, nssv1803531, nssv1803534, nssv1803533, nssv1803528, nssv1803529, nssv1803535, nssv1803532
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSD17B7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946475
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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