A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540515



Internal ID15156187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88695106..90253815hg38UCSC Ensembl
Innerchr7:88324420..89883129hg19UCSC Ensembl
Innerchr7:88162356..89721065hg18UCSC Ensembl
Innerchr7:87969071..89527780hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg381558710
hg191558710
hg181558710
hg171558710
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464626
Supporting Variants
Samples1780854574_A
Known GenesC7orf62, C7orf63, DPY19L2P4, STEAP1, STEAP2, ZNF804B
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)nssv540515
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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