A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1849934



Internal ID17828173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50740510..50776561hg38UCSC Ensembl
Innerchr10:52500270..52536321hg19UCSC Ensembl
Innerchr10:52170276..52206327hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3836052
hg1936052
hg1836052
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv948008
Supporting Variants
SamplesHGDP00998
Known GenesASAH2B
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)nssv1849934
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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