A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060071



Internal ID19149290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3398474..3633472hg38UCSC Ensembl
Innerchr17:3301768..3536766hg19UCSC Ensembl
Innerchr17:3248518..3483515hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38234999
hg19234999
hg18234998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560090
Samples
Known GenesASPA, OR1E2, OR3A3, SHPK, SPATA22, 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)nsv1060071
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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