A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946588



Internal ID18593438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202872651..202874409hg38UCSC Ensembl
Innerchr1:202841779..202843537hg19UCSC Ensembl
Innerchr1:201108402..201110160hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381759
hg191759
hg181759
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1814898, nssv1814902, nssv1814896, nssv1814900, nssv1814894, nssv1814903, nssv1814901, nssv1814897, nssv1814899, nssv1814895
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC148709
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946588
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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