A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6504371



Internal ID20877632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31203601..31205900hg38UCSC Ensembl
chr17:29530619..29532918hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18034872
Samples
Known GenesNF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6504371
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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