A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946531



Internal ID18593381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182335987..182336487hg38UCSC Ensembl
Innerchr1:182305122..182305622hg19UCSC Ensembl
Innerchr1:180571745..180572245hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1809745, nssv1809738, nssv1809743, nssv1809746, nssv1809739, nssv1809741, nssv1809740, nssv1809744, nssv1809737, nssv1809742
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946531
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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