A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17038765



Internal ID93588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:95845135..95845186hg38UCSC Ensembl
chr10:97604892..97604943hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401035
Supporting Variants
Samples
Known GenesENTPD1, ENTPD1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17038765
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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