A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574273



Internal ID16014996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4585589..5460332hg38UCSC Ensembl
Innerchr17:4488884..5363652hg19UCSC Ensembl
Innerchr17:4435633..5304376hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38874744
hg19874769
hg18868744
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv866561
Samples
Known GenesALOX15, ARRB2, C17orf107, C1QBP, CAMTA2, CHRNE, CXCL16, DHX33, ENO3, GLTPD2, GP1BA, INCA1, KIF1C, LOC100130950, LOC101559451, MED11, MINK1, MIR6864, MIR6865, NUP88, PELP1, PFN1, PLD2, PSMB6, RABEP1, RNF167, RPAIN, SCIMP, SLC25A11, SLC52A1, SMTNL2, SPAG7, TM4SF5, USP6, VMO1, ZFP3, ZMYND15, ZNF232, ZNF594
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574273
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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