A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464608



Internal ID15524673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:81236837..81308729hg38UCSC Ensembl
Innerchr7:80866153..80938045hg19UCSC Ensembl
Innerchr7:80704089..80775981hg18UCSC Ensembl
Innerchr7:80510804..80582696hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3871893
hg1971893
hg1871893
hg1771893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540501
Samples1780854261_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)nsv464608
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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