A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467491



Internal ID15180870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:132345217..132470371hg38UCSC Ensembl
Innerchr10:134158721..134283875hg19UCSC Ensembl
Innerchr10:134008711..134133865hg18UCSC Ensembl
Innerchr10:134008711..134133865hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38125155
hg19125155
hg18125155
hg17125155
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv121n27
Supporting Variantsnssv542772
SamplesNINDS_50
Known GenesC10orf91, LRRC27, PWWP2B
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)nsv467491
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