A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023115



Internal ID18765648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72700394..73285582hg38UCSC Ensembl
Innerchr7:72165357..72699584hg19UCSC Ensembl
Innerchr7:71803293..72337520hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38585189
hg19534228
hg18534228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3755319
Samples
Known GenesGTF2IP1, LOC100093631, LOC100101148, LOC541473, NCF1B, NSUN5P2, PMS2L2, PMS2P5, POM121, SBDSP1, SPDYE7P, SPDYE8P, STAG3L1, STAG3L3, TRIM73, TRIM74, TYW1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023115
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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