A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028479



Internal ID19117697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:104768944..104838640hg38UCSC Ensembl
Innerchr7:104409391..104479087hg19UCSC Ensembl
Innerchr7:104196627..104266323hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3869697
hg1969697
hg1869697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6545n100
Supporting Variantsnssv3755476
Samples
Known GenesLHFPL3, LHFPL3-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028479
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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