A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15195251



Internal ID21334161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48270750..48270750hg38UCSC Ensembl
chr15:48562947..48562947hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3930788
Supporting Variants
SamplesHG002
Known GenesSLC12A1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15195251
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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