A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998484



Internal ID20565524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:298406..301183hg38UCSC Ensembl
chr12:407572..410349hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382778
hg192778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6456090
Supporting Variants
Samples
Known GenesKDM5A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998484
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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