A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945752



Internal ID18592603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:5653646..5658065hg38UCSC Ensembl
Innerchr1:5713706..5718125hg19UCSC Ensembl
Innerchr1:5636293..5640712hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg384420
hg194420
hg184420
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1750247, nssv1750244, nssv1750251, nssv1750250, nssv1750253, nssv1750245, nssv1750252, nssv1750249, nssv1750248, nssv1750246
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945752
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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