A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020741



Internal ID19109959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:33091063..33145858hg38UCSC Ensembl
Innerchr7:33130675..33185470hg19UCSC Ensembl
Innerchr7:33097200..33151995hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3854796
hg1954796
hg1854796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6319n100
Supporting Variantsnssv3643397, nssv3752943, nssv3643391, nssv3643395, nssv3643394, nssv3643392, nssv3752941, nssv3752945, nssv3643393, nssv3752946, nssv3643396, nssv3752942, nssv3752944, nssv3643398, nssv3643390, nssv3643389
Samples
Known GenesBBS9, RP9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020741
Frequency
Sample Size11257
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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