A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14400367



Internal ID22288956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36363389..36363389hg38UCSC Ensembl
chr6:36331166..36331166hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3538410
Supporting Variants
SamplesNA19240
Known GenesETV7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14400367
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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