A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974394



Internal ID22749329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:4005086..9639734hg38UCSC Ensembl
chr4:4006813..9641358hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg385634649
hg195634546
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1547n209
Supporting Variantsnssv17412128
Samples
Known GenesABLIM2, ACOX3, AFAP1, AFAP1-AS1, BLOC1S4, C4orf6, CCDC96, CPZ, CRMP1, CYTL1, DEFB131, EVC, EVC2, FLJ36777, GPR78, GRPEL1, HMX1, HTRA3, JAKMIP1, KIAA0232, LOC100129931, LOC285484, LOC650293, LOC93622, LYAR, MAN2B2, MIR378D1, MIR4274, MIR4798, MIR548I2, MRFAP1, MRFAP1L1, MSX1, NSG1, OTOP1, PPP2R2C, PSAPL1, S100P, SH3TC1, SORCS2, STK32B, STX18, STX18-AS1, TADA2B, TBC1D14, TMEM128, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P, WFS1, ZBTB49
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974394
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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