A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589455



Internal ID16030178
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 StatusM
Merged Variants
Supporting Variantsnssv1152466, nssv1152467
Samples1780862127_A, 1780862229_A
Known GenesITPR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589455
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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