A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606750



Internal ID16047473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44107807..44114893hg38UCSC Ensembl
Innerchr7:44147406..44154492hg19UCSC Ensembl
Innerchr7:44113931..44121017hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg387087
hg197087
hg187087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11297n54
Supporting Variantsnssv1083229
Samples
Known GenesAEBP1, MIR4649, POLD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606750
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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