A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720691



Internal ID144357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4338000..4378000hg38UCSC Ensembl
chr19:4337997..4377997hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3840001
hg1940001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145526
Supporting Variants
Samples
Known GenesMPND, SH3GL1, STAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720691
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.04059


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