A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17374891



Internal ID22600560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44967961..44971307hg38UCSC Ensembl
chr1:45433633..45436979hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383347
hg193347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5879733
Supporting Variants
Samples
Known GenesEIF2B3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17374891
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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