A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892482



Internal ID169179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10919048..11710696hg38UCSC Ensembl
chr1:10979105..11770753hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38791649
hg19791649
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557473
Supporting Variants
Samples
Known GenesANGPTL7, C1orf127, DRAXIN, EXOSC10, FBXO2, FBXO44, FBXO6, LOC101929181, MAD2L2, MASP2, MTOR, MTOR-AS1, PTCHD2, SRM, TARDBP, UBIAD1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892482
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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