A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1852940



Internal ID17869594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:68002519..68014142hg38UCSC Ensembl
Innerchr10:69762276..69773899hg19UCSC Ensembl
Innerchr10:69432282..69443905hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3811624
hg1911624
hg1811624
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948046
Supporting Variants
SamplesHGDP01284
Known GenesHERC4
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)nssv1852940
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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