A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575481



Internal ID16016204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48543040..48621348hg38UCSC Ensembl
Innerchr17:46620402..46698710hg19UCSC Ensembl
Innerchr17:43975401..44053709hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3878309
hg1978309
hg1878309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5676n54
Supporting Variantsnssv1149765
SamplesNINDS_210
Known GenesHOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HOXB-AS1, HOXB-AS3, MIR10A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575481
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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