A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945519



Internal ID18592370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:485248..487657hg38UCSC Ensembl
Innerchr1:331680..334089hg19UCSC Ensembl
Innerchr1:321543..323952hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg382410
hg192410
hg182410
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2569252, nssv2569254, nssv2569247, nssv2569250, nssv2569246, nssv2569255, nssv2569253, nssv2569248, nssv2569251, nssv2569249
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945519
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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