A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946424



Internal ID18593274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157058951..157060542hg38UCSC Ensembl
Innerchr1:157028743..157030334hg19UCSC Ensembl
Innerchr1:155295367..155296958hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381592
hg191592
hg181592
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1801708, nssv1801701, nssv1801704, nssv1801709, nssv1801707, nssv1801705, nssv1801703, nssv1801706, nssv1801702, nssv1801710
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946424
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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