A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027221



Internal ID18769753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102648063..102717945hg38UCSC Ensembl
Innerchr7:102288510..102358392hg19UCSC Ensembl
Innerchr7:102075746..102145628hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3869883
hg1969883
hg1869883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3656113
Samples
Known GenesPOLR2J2, POLR2J3, SPDYE2, SPDYE2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027221
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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