A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6531779



Internal ID20905140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76481736..76484184hg38UCSC Ensembl
chr17:74477818..74480266hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg382449
hg192449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188456
Samples
Known GenesRHBDF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6531779
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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