A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034005



Internal ID18776539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:55287857..55360274hg38UCSC Ensembl
Innerchr6:55152655..55225072hg19UCSC Ensembl
Innerchr6:55260614..55333031hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3872418
hg1972418
hg1872418
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5964n100
Supporting Variantsnssv3657489
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)nsv1034005
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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