A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467192



Internal ID15180571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46001360..46085061hg38UCSC Ensembl
Innerchr10:51510761..51594462hg19UCSC Ensembl
Innerchr10:51180767..51264468hg18UCSC Ensembl
Innerchr10:51180767..51264468hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3883702
hg1983702
hg1883702
hg1783702
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542541
SamplesHGDP00986
Known GenesMSMB, NCOA4, TIMM23
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)nsv467192
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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