A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15705363



Internal ID21377639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54459710..54460024hg38UCSC Ensembl
chr12:54853494..54853808hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4390274
Supporting Variants
Samples
Known GenesGTSF1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15705363
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0373563


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