A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6533267



Internal ID20906628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42797480..43578160hg38UCSC Ensembl
chr19:43301632..44082312hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38780681
hg19780681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3536n223
Supporting Variantsnssv18197529
Samples
Known GenesCD177, ETHE1, LOC100289650, LOC284344, LYPD3, PHLDB3, PINLYP, PRG1, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9, TEX101, XRCC1, ZNF575
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6533267
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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