A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945340



Internal ID18245528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227571222..227572857hg38UCSC Ensembl
Innerchr1:227758923..227760558hg19UCSC Ensembl
Innerchr1:225825546..225827181hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381636
hg191636
hg181636
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1821193, nssv1821197, nssv1821196, nssv1821198, nssv1821199, nssv1821200, nssv1821201, nssv1821202, nssv1821194, nssv1821195
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF678
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945340
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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