A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1852839



Internal ID17531332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:67960788..67961380hg38UCSC Ensembl
Innerchr10:69720545..69721137hg19UCSC Ensembl
Innerchr10:69390551..69391143hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38593
hg19593
hg18593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv948045
Supporting Variants
SamplesHGDP01307
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)nssv1852839
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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