A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462571



Internal ID21120124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43429001..43430100hg38UCSC Ensembl
chr12:43822804..43823903hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000601
Samples
Known GenesADAMTS20
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462571
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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