A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608501



Internal ID16049224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140495663..140533785hg38UCSC Ensembl
Innerchr7:140195463..140233585hg19UCSC Ensembl
Innerchr7:139841932..139880054hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3838123
hg1938123
hg1838123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156030
Samples1780862084_A
Known GenesDENND2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608501
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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