A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15181379



Internal ID21320175
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3932053
Supporting Variants
SamplesHG002
Known GenesPEX5
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15181379
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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