A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6534251



Internal ID20907612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48550701..48551500hg38UCSC Ensembl
chr17:46628063..46628862hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18036070
Samples
Known GenesHOXB3, HOXB-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6534251
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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