A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607996



Internal ID16048719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102232361..102305844hg38UCSC Ensembl
Innerchr7:101875641..101949128hg19UCSC Ensembl
Innerchr7:101662361..101735848hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3873484
hg1973488
hg1873488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11539n54
Supporting Variantsnssv1091990
Samples
Known GenesCUX1, MIR4285, SH2B2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607996
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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