A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18153933



Internal ID20720973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148077033..148079486hg38UCSC Ensembl
chr7:147774125..147776578hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382454
hg192454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6427926
Supporting Variants
Samples
Known GenesCNTNAP2, MIR548F3, MIR548T
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18153933
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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