A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466749



Internal ID15180128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:14946397..15018884hg38UCSC Ensembl
Innerchr10:14988396..15060883hg19UCSC Ensembl
Innerchr10:15028402..15100889hg18UCSC Ensembl
Innerchr10:15028402..15100889hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3872488
hg1972488
hg1872488
hg1772488
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv69n27
Supporting Variantsnssv542216
SamplesHGDP00647
Known GenesDCLRE1C, MEIG1
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)nsv466749
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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