A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608591



Internal ID16049314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142185403..142323575hg38UCSC Ensembl
Innerchr7:141885203..142023396hg19UCSC Ensembl
Innerchr7:141531672..141669881hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38138173
hg19138194
hg18138210
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1095742
Samples
Known GenesLOC730441, MOXD2P, PRSS58
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608591
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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