A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456744



Internal ID15516809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30644082..30831032hg38UCSC Ensembl
Innerchr15:30936285..31123235hg19UCSC Ensembl
Innerchr15:28723577..28910527hg18UCSC Ensembl
Innerchr15:28723577..28910527hg17UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38186951
hg19186951
hg18186951
hg17186951
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534035
SamplesHGDP01214
Known GenesHERC2P10, LOC100288637
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)nsv456744
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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