A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199624



Internal ID20766664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55307661..55545550hg38UCSC Ensembl
chr19:55819029..56056916hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38237890
hg19237888
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6529975
Supporting Variants
Samples
Known GenesBRSK1, COX6B2, FAM71E2, IL11, ISOC2, MIR6805, NAT14, RPL28, SBK2, SBK3, SHISA7, SSC5D, SUV420H2, TMEM150B, TMEM190, TMEM238, UBE2S, ZNF628
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199624
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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