A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147271



Internal ID346453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39309620..39889637hg38UCSC Ensembl
chr21:40681546..41261562hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38580018
hg19580017
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726881
Samples
Known GenesB3GALT5, BRWD1, BRWD1-AS1, BRWD1-IT2, C21orf88, HMGN1, IGSF5, LCA5L, MIR6508, PCP4, SH3BGR, WRB
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147271
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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