A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467411



Internal ID15180790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:86630480..86680809hg38UCSC Ensembl
Innerchr10:88390237..88440566hg19UCSC Ensembl
Innerchr10:88380217..88430546hg18UCSC Ensembl
Innerchr10:88380217..88430546hg17UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3850330
hg1950330
hg1850330
hg1750330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542713
SamplesNINDS_173
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)nsv467411
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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