A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17368794



Internal ID22594463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56180147..56180441hg38UCSC Ensembl
chr12:56573931..56574225hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5940808
Supporting Variants
Samples
Known GenesSMARCC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17368794
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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