A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945918



Internal ID18592768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45176943..45195071hg38UCSC Ensembl
Innerchr1:45642615..45660743hg19UCSC Ensembl
Innerchr1:45415202..45433330hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3818129
hg1918129
hg1818129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1762037, nssv1762039, nssv1762036, nssv1762043, nssv1762044, nssv1762040, nssv1762041, nssv1762042, nssv1762038, nssv1762045
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZSWIM5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945918
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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