A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464382



Internal ID15524447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:12867553..12933060hg38UCSC Ensembl
Innerchr7:12907178..12972685hg19UCSC Ensembl
Innerchr7:12873703..12939210hg18UCSC Ensembl
Innerchr7:12680418..12745925hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3865508
hg1965508
hg1865508
hg1765508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540306
SamplesNINDS_151
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)nsv464382
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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