A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580711



Internal ID18878992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:123903724..123955278hg38UCSC Ensembl
Innerchr2:124661301..124712855hg19UCSC Ensembl
Innerchr2:124377771..124429325hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3851555
hg1951555
hg1851555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv997536
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580711
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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