A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024550



Internal ID18767082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:55372925..55522683hg38UCSC Ensembl
Innerchr6:55237723..55387481hg19UCSC Ensembl
Innerchr6:55345682..55495440hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38149759
hg19149759
hg18149759
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5965n100
Supporting Variantsnssv3657493
Samples
Known GenesGFRAL, HMGCLL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024550
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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