A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3674234



Internal ID18972515
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 StatusS
Merged Variantsnsv1023913
Supporting Variants
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)nssv3674234
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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