A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538185



Internal ID15510139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:177047424..177168375hg38UCSC Ensembl
Innerchr4:177968578..178089529hg19UCSC Ensembl
Innerchr4:178205572..178326523hg18UCSC Ensembl
Innerchr4:178343727..178464678hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38120952
hg19120952
hg18120952
hg17120952
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461843
Supporting Variants
SamplesHGDP01194
Known Genes
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)nssv538185
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