A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028282



Internal ID18770813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:964887..1000659hg38UCSC Ensembl
Innerchr7:1004523..1040295hg19UCSC Ensembl
Innerchr7:971049..1006821hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3835773
hg1935773
hg1835773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3752785
Samples
Known GenesC7orf50, COX19, CYP2W1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028282
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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