A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464249



Internal ID15524314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:1999959..2075768hg38UCSC Ensembl
Innerchr7:2039594..2115403hg19UCSC Ensembl
Innerchr7:2006120..2081929hg18UCSC Ensembl
Innerchr7:1812835..1888644hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3875810
hg1975810
hg1875810
hg1775810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv796n27
Supporting Variantsnssv540193
SamplesHGDP00787
Known GenesMAD1L1
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)nsv464249
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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