A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461281



Internal ID15174660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:15982410..15999755hg38UCSC Ensembl
Innerchr4:15984033..16001378hg19UCSC Ensembl
Innerchr4:15593131..15610476hg18UCSC Ensembl
Innerchr4:15660302..15677647hg17UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3817346
hg1917346
hg1817346
hg1717346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537692
Samples1782681275_A
Known GenesPROM1
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)nsv461281
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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