A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15194932



Internal ID21333838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74758446..74758446hg38UCSC Ensembl
chr1:75224130..75224130hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3937411
Supporting Variants
SamplesHG002
Known GenesTYW3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15194932
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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