A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1846934



Internal ID17522598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49896999..49909512hg38UCSC Ensembl
Innerchr10:51105045..51117558hg19UCSC Ensembl
Innerchr10:50775051..50787564hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3812514
hg1912514
hg1812514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv947984
Supporting Variants
SamplesHGDP01284
Known GenesPARG
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)nssv1846934
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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