A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028438



Internal ID18770969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102175051..103063688hg38UCSC Ensembl
Innerchr7:101818331..102704135hg19UCSC Ensembl
Innerchr7:101605051..102491371hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38888638
hg19885805
hg18886321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6538n100
Supporting Variantsnssv3656106
Samples
Known GenesALKBH4, CUX1, FAM185A, FBXL13, LOC100289561, LOC100630923, LRRC17, LRWD1, MIR4285, MIR4467, MIR5090, ORAI2, POLR2J, POLR2J2, POLR2J3, PRKRIP1, RASA4, RASA4B, SH2B2, SPDYE2, SPDYE2B, SPDYE6, UPK3BL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028438
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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