A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287311



Internal ID22385714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:71265397..71267491hg38UCSC Ensembl
chr6:71975100..71977194hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg382095
hg192095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7960n152
Supporting Variantsnssv14455434
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3287311
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