A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17492234



Internal ID22550161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:106299179..106320620hg38UCSC Ensembl
chr4:107220336..107241777hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3821442
hg1921442
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5837550
Supporting Variants
Samples
Known GenesAIMP1, TBCK
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17492234
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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