A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3719143



Internal ID19017424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3381841..3890153hg38UCSC Ensembl
Innerchr17:3285135..3793447hg19UCSC Ensembl
Innerchr17:3231885..3740196hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38508313
hg19508313
hg18508312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055740
Supporting Variants
Samples
Known GenesASPA, C17orf85, CAMKK1, CTNS, EMC6, GSG2, ITGAE, OR1E1, OR1E2, OR3A3, P2RX5, P2RX5-TAX1BP3, SHPK, SPATA22, TAX1BP3, TRPV1, TRPV3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3719143
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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