A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606745



Internal ID16047468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43652117..43787815hg38UCSC Ensembl
Innerchr7:43691716..43827414hg19UCSC Ensembl
Innerchr7:43658241..43793939hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38135699
hg19135699
hg18135699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155849
Samples1780862066_A
Known GenesBLVRA, COA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606745
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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