A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892877



Internal ID22667933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179099600..179106757hg38UCSC Ensembl
chr2:179964327..179971484hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg387158
hg197158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404800
Samples
Known GenesSESTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892877
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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