A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18034954



Internal ID20601994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32456569..32457840hg38UCSC Ensembl
chr17:30783587..30784858hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381272
hg191272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6515283
Supporting Variants
Samples
Known GenesPSMD11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18034954
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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