A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14391168



Internal ID22197140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42601510..42601684hg38UCSC Ensembl
chr17:40753528..40753702hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528062
Supporting Variants
SamplesHG00731
Known GenesFAM134C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14391168
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