A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540314



Internal ID15156624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:15602428..15614989hg38UCSC Ensembl
Innerchr7:15642053..15654614hg19UCSC Ensembl
Innerchr7:15608578..15621139hg18UCSC Ensembl
Innerchr7:15415293..15427854hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3812562
hg1912562
hg1812562
hg1712562
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464392
Supporting Variants
Samples1780862194_A
Known GenesMEOX2
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)nssv540314
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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