A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14298145



Internal ID22202782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180328257..180335123hg38UCSC Ensembl
chr1:180297392..180304258hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg386867
hg196867
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198988
Supporting Variants
SamplesHG00732
Known GenesACBD6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14298145
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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