A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688987



Internal ID112653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71572448..71574312hg38UCSC Ensembl
chr12:71966228..71968092hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381865
hg191865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497288
Supporting Variants
Samples
Known GenesLGR5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688987
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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