A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945662



Internal ID18592513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:8870395..8874338hg38UCSC Ensembl
Innerchr1:143216057..143220004hg19UCSC Ensembl
Innerchr1:142057580..142061527hg18UCSC Ensembl
Cytoband1q12
Allele length
AssemblyAllele length
hg383944
hg193948
hg183948
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2575717, nssv2575710, nssv2575713, nssv2575709, nssv2575712, nssv2575716, nssv2575718, nssv2575714, nssv2575711, nssv2575715
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945662
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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