A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17606744



Internal ID21798791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7196786..7196972hg38UCSC Ensembl
chr12:7349382..7349568hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6035154
Supporting Variants
Samples
Known GenesPEX5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17606744
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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