A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15199347



Internal ID21338143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56845740..56845813hg38UCSC Ensembl
chr8:57758299..57758372hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3950583
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15199347
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer