A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475246



Internal ID21132799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75504149..75506307hg38UCSC Ensembl
chr12:75897929..75900087hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg382159
hg192159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003601
Samples
Known GenesKRR1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475246
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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