A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468517



Internal ID15528582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238070797..238124833hg38UCSC Ensembl
Innerchr1:238234097..238288133hg19UCSC Ensembl
Innerchr1:236300720..236354756hg18UCSC Ensembl
Innerchr1:234560138..234614174hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3854037
hg1954037
hg1854037
hg1754037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543636
Samples1780854299_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)nsv468517
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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