A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6029732



Internal ID21939075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7190517..7190606hg38UCSC Ensembl
chr12:7343113..7343202hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17609204
Samples
Known GenesPEX5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6029732
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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