A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030397



Internal ID18772928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:1757834..1909030hg38UCSC Ensembl
Innerchr7:1797470..1948666hg19UCSC Ensembl
Innerchr7:1763996..1915192hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38151197
hg19151197
hg18151197
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3654223
Samples
Known GenesMAD1L1, MIR4655
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030397
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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