A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15197574



Internal ID21336370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168236956..168237005hg38UCSC Ensembl
chr5:167663961..167664010hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3927080
Supporting Variants
SamplesHG002
Known GenesTENM2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15197574
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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