A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057443



Internal ID19146662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3602274..3665113hg38UCSC Ensembl
Innerchr17:3505568..3568407hg19UCSC Ensembl
Innerchr17:3452317..3515156hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3862840
hg1962840
hg1862840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3085n100
Supporting Variantsnssv3560114, nssv3560115, nssv3560117, nssv3560116, nssv3719152
Samples
Known GenesCTNS, P2RX5-TAX1BP3, SHPK, TAX1BP3, TRPV1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057443
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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