A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17418003



Internal ID22475873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76270418..76286818hg38UCSC Ensembl
chr4:77191571..77207971hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3816401
hg1916401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5903902
Supporting Variants
Samples
Known GenesFAM47E, FAM47E-STBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17418003
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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