A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460583



Internal ID15173962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15701878..15768821hg38UCSC Ensembl
Innerchr1:16028373..16095316hg19UCSC Ensembl
Innerchr1:15900960..15967903hg18UCSC Ensembl
Innerchr1:15773679..15840622hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3866944
hg1966944
hg1866944
hg1766944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11n27
Supporting Variantsnssv537124
SamplesHGDP00160
Known GenesFBLIM1, PLEKHM2, SLC25A34, TMEM82
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)nsv460583
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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