A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17456121



Internal ID22513998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44968488..44971437hg38UCSC Ensembl
chr1:45434160..45437109hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg382950
hg192950
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830023
Supporting Variants
Samples
Known GenesEIF2B3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17456121
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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