A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17421122



Internal ID22478992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71742712..71744179hg38UCSC Ensembl
chr4:72608429..72609896hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg381468
hg191468
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906256
Supporting Variants
Samples
Known GenesGC
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17421122
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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