A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946512



Internal ID18593362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175044035..175049937hg38UCSC Ensembl
Innerchr1:175013171..175019073hg19UCSC Ensembl
Innerchr1:173279794..173285696hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg385903
hg195903
hg185903
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1808696, nssv1808690, nssv1808694, nssv1808688, nssv1808693, nssv1808687, nssv1808692, nssv1808695, nssv1808689, nssv1808691
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)nsv946512
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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