A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015758



Internal ID18758292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:50497706..50700456hg38UCSC Ensembl
Innerchr7:50565404..50768153hg19UCSC Ensembl
Innerchr7:50532898..50735647hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38202751
hg19202750
hg18202750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3661266
Samples
Known GenesDDC, GRB10, LOC100129427
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015758
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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