A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688597



Internal ID112263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64005632..64012084hg38UCSC Ensembl
chr12:64399412..64405864hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg386453
hg196453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497915
Supporting Variants
Samples
Known GenesSRGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688597
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002186


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