A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542084



Internal ID15158132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:127470144..127512011hg38UCSC Ensembl
Innerchr9:130232423..130274290hg19UCSC Ensembl
Innerchr9:129272244..129314111hg18UCSC Ensembl
Innerchr9:127311977..127353844hg17UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3841868
hg1941868
hg1841868
hg1741868
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466569
Supporting Variants
Samples1798860306_A
Known GenesFAM129B, LRSAM1
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)nssv542084
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