A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517892



Internal ID15098499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147399094..147400266hg38UCSC Ensembl
Innerchr7:147096186..147097358hg19UCSC Ensembl
Innerchr7:146727119..146728291hg18UCSC Ensembl
Innerchr7:146533834..146535006hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381173
hg191173
hg181173
hg171173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695300
Samples
Known GenesCNTNAP2, MIR548I4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517892
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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