A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201710



Internal ID20768751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179572201..179600700hg38UCSC Ensembl
chr1:179541336..179569835hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3828500
hg1928500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327215
Supporting Variants
Samples
Known GenesNPHS2, TDRD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201710
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00048


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