A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17498162



Internal ID22556097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75463866..75467740hg38UCSC Ensembl
chr5:74759691..74763565hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg383875
hg193875
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5842865
Supporting Variants
Samples
Known GenesCOL4A3BP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17498162
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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