A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18038535



Internal ID20605575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81308808..81315830hg38UCSC Ensembl
chr17:79282608..79289630hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg387023
hg197023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6516408
Supporting Variants
Samples
Known GenesLINC00482, TMEM105
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18038535
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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