A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540357



Internal ID15156358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43652117..43787815hg38UCSC Ensembl
Innerchr7:43691716..43827414hg19UCSC Ensembl
Innerchr7:43658241..43793939hg18UCSC Ensembl
Innerchr7:43464956..43600654hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38135699
hg19135699
hg18135699
hg17135699
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464441
Supporting Variants
Samples1780862066_A
Known GenesBLVRA, COA1
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)nssv540357
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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