A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17359230



Internal ID22584899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56470194..56470916hg38UCSC Ensembl
chr12:56863978..56864700hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38723
hg19723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930987
Supporting Variants
Samples
Known GenesSPRYD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17359230
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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