A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221635



Internal ID22365955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93231329..93231425hg38UCSC Ensembl
chr13:93883582..93883678hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2386n152
Supporting Variantsnssv14371651, nssv14371649, nssv14371647, nssv14371648, nssv14371650
SamplesHG00512, NA19239, HG00731, NA19240, HG00733
Known GenesGPC6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221635
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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