A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18150117



Internal ID20717157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123948909..123949552hg38UCSC Ensembl
chr7:123588963..123589606hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6617658
Supporting Variants
Samples
Known GenesSPAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18150117
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00045


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