A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2135646



Internal ID17471536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14766841..14768387hg38UCSC Ensembl
Innerchr19:14877653..14879199hg19UCSC Ensembl
Innerchr19:14738653..14740199hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381547
hg191547
hg181547
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961186
Supporting Variants
SamplesHGDP00927
Known GenesEMR2
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)nssv2135646
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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