A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609012



Internal ID16049735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:151054503..151125105hg38UCSC Ensembl
Innerchr7:150751590..150822192hg19UCSC Ensembl
Innerchr7:150382523..150453125hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3870603
hg1970603
hg1870603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11724n54
Supporting Variantsnssv1099509
Samples
Known GenesAGAP3, CDK5, FASTK, SLC4A2, TMUB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609012
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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