A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009561



Internal ID74013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38903548..38903552hg38UCSC Ensembl
chr8:38761066..38761070hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550341
Supporting Variants
Samples
Known GenesPLEKHA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009561
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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