A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1079143



Internal ID15932329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:11466516..12447033hg38UCSC Ensembl
Innerchr7:11506143..12486659hg19UCSC Ensembl
Innerchr7:11472668..12453184hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38980518
hg19980517
hg18980517
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv606199
Supporting Variants
Samples
Known GenesTHSD7A, TMEM106B, VWDE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1079143
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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