A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468395



Internal ID15181774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234574523..234608504hg38UCSC Ensembl
Innerchr1:234710269..234744250hg19UCSC Ensembl
Innerchr1:232776892..232810873hg18UCSC Ensembl
Innerchr1:231017004..231050985hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3833982
hg1933982
hg1833982
hg1733982
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543514
Samples1780862416_A
Known GenesIRF2BP2
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)nsv468395
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