A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5996879



Internal ID21906222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2337064..3678059hg38UCSC Ensembl
chr4:2338791..3679786hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381340996
hg191340996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17549896
Samples
Known GenesADD1, DOK7, FAM193A, GRK4, HGFAC, HTT, HTT-AS, LINC00955, LOC100133461, LOC402160, LRPAP1, MFSD10, MSANTD1, NOP14, NOP14-AS1, RGS12, RNF4, SH3BP2, TNIP2, ZFYVE28
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5996879
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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