A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462649



Internal ID15522714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:18974840..19002062hg38UCSC Ensembl
Innerchr6:18975071..19002293hg19UCSC Ensembl
Innerchr6:19083050..19110272hg18UCSC Ensembl
Innerchr6:19083050..19110272hg17UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3827223
hg1927223
hg1827223
hg1727223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538754
SamplesHGDP01414
Known Genes
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)nsv462649
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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