A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034227



Internal ID18776761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76568101..76967575hg38UCSC Ensembl
Innerchr7:76197418..76596892hg19UCSC Ensembl
Innerchr7:76035354..76434828hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38399475
hg19399475
hg18399475
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6474n100
Supporting Variantsnssv3755354
Samples
Known GenesLOC100133091, POMZP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034227
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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