A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029123



Internal ID18771655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4782103..4879646hg38UCSC Ensembl
Innerchr7:4821734..4919277hg19UCSC Ensembl
Innerchr7:4788260..4885803hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3897544
hg1997544
hg1897544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3655048
Samples
Known GenesAP5Z1, MIR4656, PAPOLB, RADIL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029123
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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