A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059749



Internal ID19148968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3602274..3654147hg38UCSC Ensembl
Innerchr17:3505568..3557441hg19UCSC Ensembl
Innerchr17:3452317..3504190hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3851874
hg1951874
hg1851874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3085n100
Supporting Variantsnssv3560112, nssv3719148, nssv3719146, nssv3560094, nssv3560104, nssv3560113, nssv3560097, nssv3560108, nssv3560102, nssv3560106, nssv3560098, nssv3719147, nssv3560101, nssv3719149, nssv3560107, nssv3560105, nssv3719144, nssv3560095, nssv3560103, nssv3560100, nssv3560110, nssv3719150, nssv3560099, nssv3719145, nssv3560111, nssv3560096, nssv3719151, nssv3560109
Samples
Known GenesCTNS, SHPK, TRPV1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059749
Frequency
Sample Size11257
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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