A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474429



Internal ID21131982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5968833..5970780hg38UCSC Ensembl
chr12:6077999..6079946hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381948
hg191948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18002216
Samples
Known GenesVWF
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474429
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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