A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1786992



Internal ID17797191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:120957885..120963420hg38UCSC Ensembl
Innerchr1:144290489..144296090hg19UCSC Ensembl
Innerchr1:143001846..143007447hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg385536
hg195602
hg185602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946227
Supporting Variants
SamplesHGDP00778
Known GenesLOC100288142
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1786992
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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