A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177689



Internal ID20744729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81799201..82693800hg38UCSC Ensembl
chr17:79759050..80651676hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38894600
hg19892627
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6525507
Supporting Variants
Samples
Known GenesALYREF, ANAPC11, ARHGDIA, ASPSCR1, C17orf62, CCDC57, CD7, CSNK1D, DCXR, DUS1L, FAM195B, FASN, FOXK2, GCGR, GPS1, HEXDC, LRRC45, MAFG, MAFG-AS1, MIR6787, MYADML2, NARF, NOTUM, NPB, OGFOD3, P4HB, PCYT2, PPP1R27, PYCR1, RAB40B, RAC3, RFNG, SECTM1, SIRT7, SLC16A3, STRA13, TEX19, UTS2R, WDR45B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177689
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0273


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