A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15202443



Internal ID21341245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138775842..138775842hg38UCSC Ensembl
chr6:139096979..139096979hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg382731
hg192731
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3944156
Supporting Variants
SamplesHG002
Known GenesCCDC28A
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15202443
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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