A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467443



Internal ID8494490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:100929460..101007360hg38UCSC Ensembl
Innerchr10:102689217..102767117hg19UCSC Ensembl
Innerchr10:102679207..102757107hg18UCSC Ensembl
Innerchr10:102679207..102757107hg17UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg3877901
hg1977901
hg1877901
hg1777901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542734
SamplesHGDP00338
Known GenesC10orf2, FAM178A, LZTS2, MIR608, MRPL43, SEMA4G
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)nsv467443
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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