A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17421724



Internal ID22479594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157139720..157139720hg38UCSC Ensembl
chr5:156566731..156566731hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5951271
Supporting Variants
Samples
Known GenesMED7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17421724
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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