A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540582



Internal ID15504840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:131947549..132020385hg38UCSC Ensembl
Innerchr7:131632308..131705144hg19UCSC Ensembl
Innerchr7:131282848..131355684hg18UCSC Ensembl
Innerchr7:131089563..131162399hg17UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg3872837
hg1972837
hg1872837
hg1772837
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464723
Supporting Variants
Samples1798860372_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)nssv540582
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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