A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15192064



Internal ID21330936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51735687..51735687hg38UCSC Ensembl
chr10:53495447..53495447hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3950949
Supporting Variants
SamplesHG002
Known GenesPRKG1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15192064
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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