A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2152721



Internal ID17835523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44148788..44150413hg38UCSC Ensembl
Innerchr19:44652941..44654566hg19UCSC Ensembl
Innerchr19:49344781..49346406hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381626
hg191626
hg181626
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961227
Supporting Variants
SamplesHGDP00998
Known GenesZNF234
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)nssv2152721
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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