A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607606



Internal ID16048329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76516684..76517915hg38UCSC Ensembl
Innerchr7:76146001..76147232hg19UCSC Ensembl
Innerchr7:75983937..75985168hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381232
hg191232
hg181232
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1088446, nssv1088445
Samples
Known GenesUPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607606
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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