A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3567801



Internal ID18519396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73843149..74706376hg38UCSC Ensembl
Innerchr17:71839288..72702515hg19UCSC Ensembl
Innerchr17:69350883..70214110hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38863228
hg19863228
hg18863228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1059570
Supporting Variants
Samples
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LF, 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)nssv3567801
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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