A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010642



Internal ID74723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38138320..38138385hg38UCSC Ensembl
chr8:37995838..37995903hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490999
Supporting Variants
Samples
Known GenesASH2L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010642
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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