A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575483



Internal ID16016206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48548157..48616129hg38UCSC Ensembl
Innerchr17:46625519..46693491hg19UCSC Ensembl
Innerchr17:43980518..44048490hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3867973
hg1967973
hg1867973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5676n54
Supporting Variantsnssv1149766
SamplesNINDS_201
Known GenesHOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, 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)nsv575483
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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