A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945341



Internal ID18592192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227597044..227599683hg38UCSC Ensembl
Innerchr1:227784745..227787384hg19UCSC Ensembl
Innerchr1:225851368..225854007hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382640
hg192640
hg182640
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1821293, nssv1821297, nssv1821292, nssv1821291, nssv1821296, nssv1821299, nssv1821295, nssv1821290, nssv1821298, nssv1821294
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)nsv945341
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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