A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14401025



Internal ID22320509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:120314130..120314246hg38UCSC Ensembl
chr7:119954184..119954300hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190191
Supporting Variants
SamplesNA19240
Known GenesKCND2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14401025
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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