A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029946



Internal ID18772477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147296321..147324855hg38UCSC Ensembl
Innerchr7:146993413..147021947hg19UCSC Ensembl
Innerchr7:146624346..146652880hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3828535
hg1928535
hg1828535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3674231
Samples
Known GenesCNTNAP2, MIR548I4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029946
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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