A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542524



Internal ID15503288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194802203..194863360hg38UCSC Ensembl
Innerchr1:194771333..194832490hg19UCSC Ensembl
Innerchr1:193037956..193099113hg18UCSC Ensembl
Innerchr1:191502990..191564147hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3861158
hg1961158
hg1861158
hg1761158
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467116
Supporting Variants
Samples1780862176_A
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)nssv542524
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