A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv866448



Internal ID15813718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3486822..3729542hg38UCSC Ensembl
Innerchr17:3390116..3632836hg19UCSC Ensembl
Innerchr17:3336866..3579585hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38242721
hg19242721
hg18242720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv574237
Supporting Variants
Samples
Known GenesASPA, CTNS, EMC6, GSG2, ITGAE, P2RX5, P2RX5-TAX1BP3, SHPK, TAX1BP3, TRPV1, TRPV3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv866448
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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