A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350192



Internal ID22575861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32831599..32834600hg38UCSC Ensembl
chr12:32984533..32987534hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg383002
hg193002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5918712
Supporting Variants
Samples
Known GenesPKP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350192
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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