A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16996152



Internal ID64888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:36179528..36179674hg38UCSC Ensembl
chr7:36219137..36219283hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485610
Supporting Variants
Samples
Known GenesEEPD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16996152
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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