A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946187



Internal ID18593037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119827455..119863384hg38UCSC Ensembl
Innerchr1:120370078..120406007hg19UCSC Ensembl
Innerchr1:120171601..120207530hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3835930
hg1935930
hg1835930
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1786336, nssv1786333, nssv1786337, nssv1786342, nssv1786334, nssv1786339, nssv1786341, nssv1786340, nssv1786335, nssv1786338
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNBPF7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946187
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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