A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15196441



Internal ID21335237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70481421..70481490hg38UCSC Ensembl
chr4:71347138..71347207hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3925369
Supporting Variants
SamplesHG002
Known GenesMUC7
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15196441
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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