A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202945



Internal ID22352036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1508735..1508790hg38UCSC Ensembl
chr17:1412029..1412084hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14431582
SamplesHG00514
Known GenesINPP5K
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202945
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