A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023913



Internal ID18766446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147823983..148109226hg38UCSC Ensembl
Innerchr7:147521075..147806318hg19UCSC Ensembl
Innerchr7:147152008..147437251hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38285244
hg19285244
hg18285244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3674234
Samples
Known GenesCNTNAP2, MIR548F3, MIR548T
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023913
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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