A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606283



Internal ID16047006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:14536538..15793555hg38UCSC Ensembl
Innerchr7:14576163..15833180hg19UCSC Ensembl
Innerchr7:14542688..15799705hg18UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg381257018
hg191257018
hg181257018
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1079286
Samples
Known GenesAGMO, DGKB, MEOX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606283
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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