A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15176934



Internal ID21315730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:620925..620987hg38UCSC Ensembl
chr19:620925..620987hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3927137
Supporting Variants
SamplesHG002
Known GenesPOLRMT
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15176934
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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