A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556207



Internal ID329348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100499061..100696513hg38UCSC Ensembl
chr7:100096684..100294136hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38197453
hg19197453
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000138
Samples
Known GenesACTL6B, AGFG2, FBXO24, GIGYF1, GNB2, LRCH4, MOSPD3, PCOLCE, PCOLCE-AS1, SAP25, TFR2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556207
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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