A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723731



Internal ID147397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47045166..47046216hg38UCSC Ensembl
chr19:47548424..47549474hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381051
hg191051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527504
Supporting Variants
Samples
Known GenesNPAS1, TMEM160
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723731
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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