A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521548



Internal ID15102155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147170247..147174821hg38UCSC Ensembl
Innerchr7:146867339..146871913hg19UCSC Ensembl
Innerchr7:146498272..146502846hg18UCSC Ensembl
Innerchr7:146304987..146309561hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg384575
hg194575
hg184575
hg174575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698163
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521548
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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