A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475320



Internal ID21132873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56784549..56790425hg38UCSC Ensembl
chr12:57178333..57184209hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg385877
hg195877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001870
Samples
Known GenesHSD17B6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475320
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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