A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608954



Internal ID16049677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147407795..147448484hg38UCSC Ensembl
Innerchr7:147104887..147145576hg19UCSC Ensembl
Innerchr7:146735820..146776509hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3840690
hg1940690
hg1840690
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1098072, nssv1098073
Samples
Known GenesCNTNAP2, MIR548I4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608954
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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