A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464443



Internal ID15524508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:48783558..48855734hg38UCSC Ensembl
Innerchr7:48823154..48895330hg19UCSC Ensembl
Innerchr7:48793700..48865876hg18UCSC Ensembl
Innerchr7:48600415..48672591hg17UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3872177
hg1972177
hg1872177
hg1772177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540359
SamplesHGDP01311
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)nsv464443
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer