A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034692



Internal ID18777225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76443262..76977978hg38UCSC Ensembl
Innerchr7:76072579..76607295hg19UCSC Ensembl
Innerchr7:75910515..76445231hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38534717
hg19534717
hg18534717
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3656507, nssv3656510, nssv3656509, nssv3656511, nssv3656508
Samples
Known GenesDTX2, FDPSP2, LOC100133091, POMZP3, UPK3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034692
Frequency
Sample Size29084
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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