A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1814691



Internal ID17463330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203852388..203854379hg38UCSC Ensembl
Innerchr1:203821516..203823507hg19UCSC Ensembl
Innerchr1:202088139..202090130hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381992
hg191992
hg181992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946599
Supporting Variants
SamplesHGDP00927
Known GenesZC3H11A
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)nssv1814691
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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