A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951588



Internal ID22726948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37737959..37737959hg38UCSC Ensembl
chr1:38203631..38203631hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377695
Samples
Known GenesEPHA10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5951588
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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