A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17415494



Internal ID22473364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:57180871..57182634hg38UCSC Ensembl
chr5:56476698..56478461hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381764
hg191764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893571
Supporting Variants
Samples
Known GenesGPBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17415494
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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