A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455725



Internal ID15515790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119094625..119120760hg38UCSC Ensembl
Innerchr12:119532430..119558565hg19UCSC Ensembl
Innerchr12:118016813..118042948hg18UCSC Ensembl
Innerchr12:117995150..118021285hg17UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3826136
hg1926136
hg1826136
hg1726136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533222
Samples1780854538_A
Known GenesSRRM4
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)nsv455725
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