A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189108



Internal ID21327953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37677771..37677771hg38UCSC Ensembl
chr21:39050073..39050073hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3925474
Supporting Variants
SamplesHG002
Known GenesKCNJ6
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189108
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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