A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15188680



Internal ID21327514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38207570..38207570hg38UCSC Ensembl
chr21:39579664..39579664hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3929263
Supporting Variants
SamplesHG002
Known GenesDSCR10
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15188680
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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