A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608941



Internal ID16049664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146709287..147062808hg38UCSC Ensembl
Innerchr7:146406379..146759900hg19UCSC Ensembl
Innerchr7:146037312..146390833hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38353522
hg19353522
hg18353522
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1097950
Samples
Known GenesCNTNAP2, MIR548AQ, MIR548AR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608941
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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