A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055272



Internal ID18797803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73829384..74684903hg38UCSC Ensembl
Innerchr17:71825523..72681042hg19UCSC Ensembl
Innerchr17:69337118..70192637hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38855520
hg19855520
hg18855520
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3282n100
Supporting Variantsnssv3725158
Samples
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RAB37, RPL38, TTYH2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055272
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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