A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474916



Internal ID21132469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43459901..43488700hg38UCSC Ensembl
chr12:43853704..43882503hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3828800
hg1928800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000604
Samples
Known GenesADAMTS20
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474916
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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