A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997005



Internal ID20564046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112295901..112297600hg38UCSC Ensembl
chr12:112733705..112735404hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6480531
Supporting Variants
Samples
Known GenesHECTD4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997005
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00152


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