A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458725



Internal ID15518790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51620296..51652196hg38UCSC Ensembl
Innerchr19:52123549..52155449hg19UCSC Ensembl
Innerchr19:56815361..56847261hg18UCSC Ensembl
Innerchr19:56815361..56847261hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3831901
hg1931901
hg1831901
hg1731901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535635
SamplesNINDS_88
Known GenesSIGLEC14, SIGLEC5
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)nsv458725
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