A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945876



Internal ID18592726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:34795129..34795810hg38UCSC Ensembl
Innerchr1:35260730..35261411hg19UCSC Ensembl
Innerchr1:35033317..35033998hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38682
hg19682
hg18682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1759385, nssv1759382, nssv1759380, nssv1759386, nssv1759383, nssv1759387, nssv1759384, nssv1759381, nssv1759378, nssv1759379
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGJA4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945876
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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