A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606749



Internal ID16394158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44107807..44110911hg38UCSC Ensembl
Innerchr7:44147406..44150510hg19UCSC Ensembl
Innerchr7:44113931..44117035hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg383105
hg193105
hg183105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1083228
Samples
Known GenesAEBP1, MIR4649
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606749
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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