A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462948



Internal ID15176327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:55373293..55504017hg38UCSC Ensembl
Innerchr6:55238091..55368815hg19UCSC Ensembl
Innerchr6:55346050..55476774hg18UCSC Ensembl
Innerchr6:55346050..55476774hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38130725
hg19130725
hg18130725
hg17130725
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538999
SamplesHGDP00942
Known GenesGFRAL, HMGCLL1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv462948
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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