A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978296



Internal ID22753231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81945255..82544213hg38UCSC Ensembl
chr17:79903131..80502089hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38598959
hg19598959
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379676
Samples
Known GenesASPSCR1, C17orf62, CCDC57, CD7, CSNK1D, DCXR, DUS1L, FASN, FOXK2, GPS1, HEXDC, LRRC45, MIR6787, MYADML2, NARF, NOTUM, OGFOD3, RAC3, RFNG, SECTM1, SLC16A3, STRA13, TEX19, UTS2R
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978296
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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