A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468249



Internal ID15181628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227828669..227857807hg38UCSC Ensembl
Innerchr1:228016370..228045508hg19UCSC Ensembl
Innerchr1:226082993..226112131hg18UCSC Ensembl
Innerchr1:224323105..224352243hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3829139
hg1929139
hg1829139
hg1729139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543377
Samples1780854495_A
Known GenesPRSS38
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)nsv468249
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