A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945361



Internal ID18245436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:229515909..229517861hg38UCSC Ensembl
Innerchr1:229651656..229653608hg19UCSC Ensembl
Innerchr1:227718279..227720231hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381953
hg191953
hg181953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1823067, nssv1823062, nssv1823058, nssv1823065, nssv1823064, nssv1823061, nssv1823059, nssv1823066, nssv1823060, nssv1823063
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesABCB10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945361
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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