A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481076



Internal ID22538980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59145502..59153692hg38UCSC Ensembl
chr1:59611174..59619364hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg388191
hg198191
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830269
Supporting Variants
Samples
Known GenesHSD52
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481076
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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