A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575480



Internal ID16016203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48539657..48607567hg38UCSC Ensembl
Innerchr17:46617019..46684929hg19UCSC Ensembl
Innerchr17:43972018..44039928hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3867911
hg1967911
hg1867911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5676n54
Supporting Variantsnssv873115
Samples
Known GenesHOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, 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)nsv575480
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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