A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034147



Internal ID19123369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160610658..160647698hg38UCSC Ensembl
Innerchr6:161031690..161068730hg19UCSC Ensembl
Innerchr6:160951680..160988720hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3837041
hg1937041
hg1837041
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6166n100
Supporting Variantsnssv3749571, nssv3749572
Samples
Known GenesLPA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034147
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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