A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400683



Internal ID22458553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62471432..62471432hg38UCSC Ensembl
chr20:61046488..61046488hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5969554
Supporting Variants
Samples
Known GenesGATA5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400683
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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