A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720604



Internal ID144270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3685570..3694015hg38UCSC Ensembl
chr19:3685568..3694013hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg388446
hg198446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526915
Supporting Variants
Samples
Known GenesPIP5K1C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720604
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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