A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946524



Internal ID18593374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179589725..179590835hg38UCSC Ensembl
Innerchr1:179558860..179559970hg19UCSC Ensembl
Innerchr1:177825483..177826593hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381111
hg191111
hg181111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1807313, nssv1807314, nssv1807310, nssv1807309, nssv1807315, nssv1807307, nssv1807308, nssv1807311, nssv1807312, nssv1807316
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946524
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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