A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542785



Internal ID15502412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133328068..133402966hg38UCSC Ensembl
Innerchr10:135141572..135216470hg19UCSC Ensembl
Innerchr10:134991562..135066460hg18UCSC Ensembl
Innerchr10:135030453..135105351hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3874899
hg1974899
hg1874899
hg1774899
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467509
Supporting Variants
Samples1780854339_A
Known GenesCALY, ECHS1, FUOM, MIR3944, MTG1, PAOX, PRAP1
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)nssv542785
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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