A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605825



Internal ID16046548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:1612264..1802771hg38UCSC Ensembl
Innerchr7:1651900..1842407hg19UCSC Ensembl
Innerchr7:1618426..1808933hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38190508
hg19190508
hg18190508
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155107
Samples1780854436_A
Known GenesELFN1, TFAMP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605825
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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