A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3171947



Internal ID22331557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40752822..40752887hg38UCSC Ensembl
chr4:40754839..40754904hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14425268, nssv14397938, nssv14452286
SamplesNA19240, HG00733, HG00514
Known GenesNSUN7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3171947
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