A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946157



Internal ID18246321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:114703773..114705567hg38UCSC Ensembl
Innerchr1:115246394..115248188hg19UCSC Ensembl
Innerchr1:115047917..115049711hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381795
hg191795
hg181795
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1783554, nssv1783551, nssv1783555, nssv1783557, nssv1783553, nssv1783552, nssv1783549, nssv1783548, nssv1783550, nssv1783556
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNRAS
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946157
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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