A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17354337



Internal ID22580006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50384862..50391371hg38UCSC Ensembl
chr12:50778645..50785154hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg386510
hg196510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936213
Supporting Variants
Samples
Known GenesFAM186A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17354337
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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