A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394672



Internal ID22452542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42245094..42245094hg38UCSC Ensembl
chr2:42472234..42472234hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5956446
Supporting Variants
Samples
Known GenesEML4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394672
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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