A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540326



Internal ID15503106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:21082478..21122407hg38UCSC Ensembl
Innerchr7:21122097..21162026hg19UCSC Ensembl
Innerchr7:21088622..21128551hg18UCSC Ensembl
Innerchr7:20895337..20935266hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3839930
hg1939930
hg1839930
hg1739930
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464407
Supporting Variants
Samples1780862082_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)nssv540326
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