A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000138



Internal ID67675
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 StatusS
Merged Variantsnsv5556207
Supporting Variants
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)nssv17000138
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000937


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