A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607707



Internal ID16048430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:83751716..84017500hg38UCSC Ensembl
Innerchr7:83381032..83646816hg19UCSC Ensembl
Innerchr7:83218968..83484752hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38265785
hg19265785
hg18265785
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1089368
Samples
Known GenesSEMA3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607707
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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