A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945864



Internal ID18592714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:30949178..30949974hg38UCSC Ensembl
Innerchr1:31422025..31422821hg19UCSC Ensembl
Innerchr1:31194612..31195408hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38797
hg19797
hg18797
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1757388, nssv1757390, nssv1757387, nssv1757389, nssv1757391, nssv1757393, nssv1757385, nssv1757392, nssv1757386, nssv1757384
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPUM1, SNORD103A, SNORD103B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945864
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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