A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998823



Internal ID16945089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81637175..81860124hg38UCSC Ensembl
Outerchr17:79604201..79818000hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38222950
hg19213800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952390
Supporting Variants
SamplesBILGI_BIOE
Known GenesARL16, CCDC137, FAM195B, GCGR, HGS, MIR6786, MRPL12, OXLD1, P4HB, PDE6G, PPP1R27, SLC25A10, TSPAN10
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998823
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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