A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945987



Internal ID18246151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68160584..68162412hg38UCSC Ensembl
Innerchr1:68626267..68628095hg19UCSC Ensembl
Innerchr1:68398855..68400683hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381829
hg191829
hg181829
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1770162, nssv1770169, nssv1770161, nssv1770165, nssv1770167, nssv1770170, nssv1770166, nssv1770168, nssv1770163, nssv1770164
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGNG12-AS1, WLS
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945987
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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