A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516126



Internal ID15443419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:48947848..48951705hg38UCSC Ensembl
Innerchr7:48987444..48991301hg19UCSC Ensembl
Innerchr7:48957990..48961847hg18UCSC Ensembl
Innerchr7:48764705..48768562hg17UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg383858
hg193858
hg183858
hg173858
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv666382, nssv680683
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516126
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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