A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029279



Internal ID18771811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:55287857..55357898hg38UCSC Ensembl
Innerchr6:55152655..55222696hg19UCSC Ensembl
Innerchr6:55260614..55330655hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3870042
hg1970042
hg1870042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5964n100
Supporting Variantsnssv3657488
Samples
Known GenesGFRAL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029279
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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