A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17497360



Internal ID22555294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52853811..52855910hg38UCSC Ensembl
chr5:52149645..52151744hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5843083
Supporting Variants
Samples
Known GenesITGA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17497360
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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