A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542726



Internal ID15166057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:90322493..90800151hg38UCSC Ensembl
Innerchr10:92082250..92559908hg19UCSC Ensembl
Innerchr10:92072230..92549888hg18UCSC Ensembl
Innerchr10:92072230..92549888hg17UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg38477659
hg19477659
hg18477659
hg17477659
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467432
Supporting Variants
SamplesNINDS_59
Known GenesHTR7
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)nssv542726
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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