A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462877



Internal ID15522942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32183666..32210123hg38UCSC Ensembl
Innerchr6:32151443..32177900hg19UCSC Ensembl
Innerchr6:32259421..32285878hg18UCSC Ensembl
Innerchr6:32259421..32285878hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3826458
hg1926458
hg1826458
hg1726458
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538948
Samples1798860372_A
Known GenesAGER, GPSM3, NOTCH4, PBX2
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)nsv462877
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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