A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456730



Internal ID15516795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:24821213..24869979hg38UCSC Ensembl
Innerchr15:25066360..25115126hg19UCSC Ensembl
Innerchr15:22617453..22666219hg18UCSC Ensembl
Innerchr15:22617453..22666219hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3848767
hg1948767
hg1848767
hg1748767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534022
Samples1780862101_A
Known GenesSNRPN
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)nsv456730
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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