A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18147633



Internal ID20714673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99399929..99400340hg38UCSC Ensembl
chr6:99847805..99848216hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6614239
Supporting Variants
Samples
Known GenesPNISR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18147633
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00087


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