A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688824



Internal ID112490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68505176..68509396hg38UCSC Ensembl
chr12:68898956..68903176hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg384221
hg194221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500970
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688824
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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