A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17360156



Internal ID22585825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116720446..116737787hg38UCSC Ensembl
chr12:117158251..117175592hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3817342
hg1917342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943772
Supporting Variants
Samples
Known GenesC12orf49
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17360156
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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