A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467412



Internal ID15180791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:86653555..86680809hg38UCSC Ensembl
Innerchr10:88413312..88440566hg19UCSC Ensembl
Innerchr10:88403292..88430546hg18UCSC Ensembl
Innerchr10:88403292..88430546hg17UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3827255
hg1927255
hg1827255
hg1727255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv116n27
Supporting Variantsnssv542714
SamplesHGDP00619
Known GenesLDB3, OPN4
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)nsv467412
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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