A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3932053



Internal ID21352122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7199806..7199900hg38UCSC Ensembl
chr12:7352402..7352496hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15181379
SamplesHG002
Known GenesPEX5
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3932053
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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