A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15178191



Internal ID21316987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40440349..40440571hg38UCSC Ensembl
chr21:41812276..41812498hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3947186
Supporting Variants
SamplesHG002
Known GenesDSCAM
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15178191
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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