A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1152466



Internal ID15507777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4751836..4755357hg38UCSC Ensembl
Innerchr3:4793520..4797041hg19UCSC Ensembl
Innerchr3:4768520..4772041hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg383522
hg193522
hg183522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv589455
Supporting Variants
Samples1780862127_A
Known GenesITPR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1152466
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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