A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6460794



Internal ID21118347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57441730..57444727hg38UCSC Ensembl
chr12:57835513..57838510hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg382998
hg192998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001958
Samples
Known GenesINHBC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6460794
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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