A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6531979



Internal ID20905340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76487238..76487502hg38UCSC Ensembl
chr17:74483320..74483584hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18038236
Samples
Known GenesRHBDF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6531979
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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