A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017483



Internal ID18760017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102597673..102717945hg38UCSC Ensembl
Innerchr7:102238120..102358392hg19UCSC Ensembl
Innerchr7:102025190..102145628hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38120273
hg19120273
hg18120439
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6539n100
Supporting Variantsnssv3656109, nssv3656110, nssv3656108, nssv3656107
Samples
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017483
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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