A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18248980



Internal ID20816020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204500842..208290127hg38UCSC Ensembl
chr1:204469970..208463472hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383789286
hg193993503
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6554773
Supporting Variants
Samples
Known GenesAVPR1B, BLACAT1, C1orf116, C1orf186, C4BPA, C4BPB, CD34, CD46, CD55, CDK18, CNTN2, CR1, CR1L, CR2, CTSE, DSTYK, DYRK3, EIF2D, ELK4, FAIM3, FAM72A, FCAMR, IKBKE, IL10, IL19, IL20, IL24, KLHDC8A, LEMD1, LEMD1-AS1, LOC148696, LOC284578, LOC284581, LRRN2, MAPKAPK2, MDM4, MFSD4, MIR135B, MIR29B2, MIR29C, MIR6769B, NFASC, NUAK2, NUCKS1, PFKFB2, PIGR, PLXNA2, PM20D1, RAB7L1, RASSF5, RBBP5, SLC26A9, SLC41A1, SLC45A3, SRGAP2, SRGAP2B, SRGAP2C, SRGAP2D, TMCC2, TMEM81, YOD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18248980
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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