A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607607



Internal ID16048330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76516684..76518932hg38UCSC Ensembl
Innerchr7:76146001..76148249hg19UCSC Ensembl
Innerchr7:75983937..75986185hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382249
hg192249
hg182249
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11470n54
Supporting Variantsnssv1088448, nssv1088447
Samples
Known GenesUPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607607
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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