A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18256534



Internal ID20823574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113382126..121687299hg38UCSC Ensembl
chr2:114139703..122444875hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg388305174
hg198305173
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6553311
Supporting Variants
Samples
Known GenesACTR3, C1QL2, C2orf76, CBWD2, CCDC93, CLASP1, DBI, DDX11L2, DDX18, DPP10, DPP10-AS1, EN1, EPB41L5, FAM138B, FOXD4L1, GLI2, INHBB, INSIG2, LINC01101, LOC100499194, LOC440900, MARCO, MIR4782, NIFK-AS1, PCDP1, PTPN4, RABL2A, RALB, RNU4ATAC, RPL23AP7, SCTR, SLC35F5, STEAP3, TFCP2L1, TMEM177, TMEM185B, TMEM37, WASH2P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18256534
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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