A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201537



Internal ID20768578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168231902..168410441hg38UCSC Ensembl
chr1:168201140..168379679hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38178540
hg19178540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6322493
Supporting Variants
Samples
Known GenesANKRD36BP1, LOC100505918, MIR557, SFT2D2, TBX19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201537
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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