A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000237



Internal ID16946503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7174582..7456981hg38UCSC Ensembl
Outerchr17:7077901..7360300hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38282400
hg19282400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952118
Supporting Variants
SamplesBILGI_BIOE
Known GenesACADVL, ACAP1, ASGR1, C17orf74, CHRNB1, CLDN7, CTDNEP1, DLG4, DVL2, EIF5A, ELP5, FGF11, GABARAP, GPS2, KCTD11, MIR324, NEURL4, NLGN2, PHF23, PLSCR3, SLC2A4, SPEM1, TMEM102, TMEM256, TMEM256-PLSCR3, TMEM95, TNK1, YBX2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000237
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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