A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15178791



Internal ID21317587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40214938..40215263hg38UCSC Ensembl
chr21:41586865..41587190hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3945428
Supporting Variants
SamplesHG002
Known GenesDSCAM
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15178791
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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