A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466172



Internal ID15179551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12565072..12610391hg38UCSC Ensembl
Innerchr1:12625101..12670396hg19UCSC Ensembl
Innerchr1:12547688..12592983hg18UCSC Ensembl
Innerchr1:12559367..12604662hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3845320
hg1945296
hg1845296
hg1745296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541787
SamplesNINDS_71
Known GenesDHRS3, MIR6730
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)nsv466172
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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