A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18153934



Internal ID20720974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148077470..148082825hg38UCSC Ensembl
chr7:147774562..147779917hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg385356
hg195356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6418926
Supporting Variants
Samples
Known GenesCNTNAP2, MIR548F3, MIR548T
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18153934
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