A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609044



Internal ID16049767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:151970360..152057922hg38UCSC Ensembl
Innerchr7:151667445..151755007hg19UCSC Ensembl
Innerchr7:151298378..151385940hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3887563
hg1987563
hg1887563
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1099593
Samples
Known GenesGALNT11, GALNTL5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609044
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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