A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343953



Internal ID21001506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119839901..119843600hg38UCSC Ensembl
chr2:120597477..120601176hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206557
Samples
Known GenesPTPN4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343953
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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