A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5872101



Internal ID22647040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202642145..202642382hg38UCSC Ensembl
chr1:202611273..202611510hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358532
Samples
Known GenesSYT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5872101
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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