A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15196672



Internal ID21335468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53102570..53102625hg38UCSC Ensembl
chr5:52398400..52398455hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3937544
Supporting Variants
SamplesHG002
Known GenesMOCS2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15196672
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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