A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17472748



Internal ID22530640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:72060816..72076890hg38UCSC Ensembl
chr16:72094715..72110789hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3816075
hg1916075
Variant TypeOTHER copy number variation
Copy Number5
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5872978
Supporting Variants
Samples
Known GenesHP, HPR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17472748
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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