A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047465



Internal ID19136684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:95455242..95465943hg38UCSC Ensembl
Innerchr9:98217524..98228225hg19UCSC Ensembl
Innerchr9:97257345..97268046hg18UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg3810702
hg1910702
hg1810702
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3697567
Samples
Known GenesLOC100507346, PTCH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047465
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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