A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17369002



Internal ID22594671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120205097..120205409hg38UCSC Ensembl
chr12:120642900..120643212hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943434
Supporting Variants
Samples
Known GenesPXN-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17369002
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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