A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16953553



Internal ID36386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:120373769..143797136hg38UCSC Ensembl
chr4:121294924..144718289hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg3823423368
hg1923423366
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558253
Supporting Variants
Samples
Known GenesADAD1, ANKRD50, ANXA5, BBS12, BBS7, C4orf29, C4orf33, CCNA2, CCRN4L, CETN4P, CLGN, ELF2, ELMOD2, EXOSC9, FAT4, FGF2, FREM3, GAB1, GUSBP5, HSPA4L, IL15, IL2, IL21, IL21-AS1, INPP4B, INTU, JADE1, KIAA1109, LARP1B, LINC00499, LINC00613, LINC00616, LINC01091, LOC100129858, LOC152586, MAML3, MFSD8, MGARP, MGST2, MIR2054, NAA15, NDNF, NDUFC1, NUDT6, PABPC4L, PCDH10, PCDH18, PGRMC2, PLK4, PP12613, PRDM5, QRFPR, RAB33B, RNF150, SCLT1, SCOC, SETD7, SLC25A31, SLC7A11, SLC7A11-AS1, SMARCA5, SMARCA5-AS1, SPATA5, SPRY1, TBC1D9, TMEM155, TNIP3, TNRC18P1, TRPC3, UCP1, USP38, ZNF330
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16953553
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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