A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466616



Internal ID15179995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12775725..12851347hg38UCSC Ensembl
Innerchr1:12835868..12911200hg19UCSC Ensembl
Innerchr1:12758455..12833787hg18UCSC Ensembl
Innerchr1:12770134..12845466hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3875623
hg1975333
hg1875333
hg1775333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6n27
Supporting Variantsnssv542118
SamplesHGDP00952
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12
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)nsv466616
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer