A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17359220



Internal ID22584889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120001786..120002010hg38UCSC Ensembl
chr12:120439590..120439814hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5940772
Supporting Variants
Samples
Known GenesCCDC64
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17359220
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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