A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6530649



Internal ID20904010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42576896..43593497hg38UCSC Ensembl
chr19:43081048..44097649hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381016602
hg191016602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3536n223
Supporting Variantsnssv18197435
Samples
Known GenesCD177, CEACAM8, ETHE1, IRGQ, LIPE-AS1, LOC100289650, LOC284344, LYPD3, PHLDB3, PINLYP, PRG1, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9, TEX101, XRCC1, ZNF575
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6530649
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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