A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17359937



Internal ID22585606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56906738..56973910hg38UCSC Ensembl
chr12:57300522..57367694hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3867173
hg1967173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5937392
Supporting Variants
Samples
Known GenesRDH16, SDR9C7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17359937
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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