A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466912



Internal ID15180291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46259024hg38UCSC Ensembl
Innerchr10:47543322..47630260hg19UCSC Ensembl
Innerchr10:47013328..47100266hg18UCSC Ensembl
Innerchr10:47013328..47100266hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3886939
hg1986939
hg1886939
hg1786939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv81n27
Supporting Variantsnssv542350
SamplesHGDP00907
Known GenesANTXRLP1
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)nsv466912
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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