A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5962770



Internal ID22737705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217066395..217066395hg38UCSC Ensembl
chr1:217239737..217239737hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351814
Samples
Known GenesESRRG
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5962770
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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