A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609045



Internal ID16049768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152094085..152201919hg38UCSC Ensembl
Innerchr7:151791170..151899004hg19UCSC Ensembl
Innerchr7:151422103..151529937hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38107835
hg19107835
hg18107835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1099594
Samples
Known GenesGALNT11, KMT2C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609045
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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