A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17368175



Internal ID22593844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42179353..42180830hg38UCSC Ensembl
chr12:42573155..42574632hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381478
hg191478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5942662
Supporting Variants
Samples
Known GenesYAF2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17368175
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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