A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608943



Internal ID16049666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147303985..147388953hg38UCSC Ensembl
Innerchr7:147001077..147086045hg19UCSC Ensembl
Innerchr7:146632010..146716978hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3884969
hg1984969
hg1884969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1097952
Samples
Known GenesCNTNAP2, MIR548F4, MIR548I4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608943
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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