A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427718



Internal ID22485588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3883398..8956544hg38UCSC Ensembl
chr4:3885125..8958270hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg385073147
hg195073146
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5973087
Supporting Variants
Samples
Known GenesABLIM2, ACOX3, AFAP1, AFAP1-AS1, BLOC1S4, C4orf6, CCDC96, CPZ, CRMP1, CYTL1, EVC, EVC2, FAM86EP, FLJ36777, GPR78, GRPEL1, HMX1, HTRA3, JAKMIP1, KIAA0232, LOC100129931, LOC285484, LOC650293, LOC93622, LYAR, MAN2B2, MIR378D1, MIR4274, MIR4798, MRFAP1, MRFAP1L1, MSX1, NSG1, OTOP1, PPP2R2C, PSAPL1, S100P, SH3TC1, SORCS2, STK32B, STX18, STX18-AS1, TADA2B, TBC1D14, TMEM128, TRMT44, WFS1, ZBTB49
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427718
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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