A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1797586



Internal ID17533670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150054012..150054989hg38UCSC Ensembl
Innerchr1:150025994..150026975hg19UCSC Ensembl
Innerchr1:148292618..148293599hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38978
hg19982
hg18982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946383
Supporting Variants
SamplesHGDP01307
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1797586
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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