A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462630



Internal ID15522695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:9537378..9583119hg38UCSC Ensembl
Innerchr6:9537611..9583352hg19UCSC Ensembl
Innerchr6:9645597..9691338hg18UCSC Ensembl
Innerchr6:9645597..9691338hg17UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3845742
hg1945742
hg1845742
hg1745742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538741
Samples1780846029_A
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)nsv462630
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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