A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034233



Internal ID18776767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102648063..102778255hg38UCSC Ensembl
Innerchr7:102288510..102418702hg19UCSC Ensembl
Innerchr7:102075746..102205938hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38130193
hg19130193
hg18130193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3656114
Samples
Known GenesFAM185A, POLR2J2, 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)nsv1034233
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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