A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946587



Internal ID18593437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202766880..202767380hg38UCSC Ensembl
Innerchr1:202736008..202736508hg19UCSC Ensembl
Innerchr1:201002631..201003131hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1814398, nssv1814400, nssv1814399, nssv1814396, nssv1814403, nssv1814404, nssv1814402, nssv1814395, nssv1814397, nssv1814401
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKDM5B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946587
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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