A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5898082



Internal ID22673193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76245088..76257974hg38UCSC Ensembl
chr4:77166241..77179127hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3812887
hg1912887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17415819
Samples
Known GenesFAM47E, FAM47E-STBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5898082
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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