A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607012



Internal ID16394421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:53387199..53522557hg38UCSC Ensembl
Innerchr7:53454892..53590250hg19UCSC Ensembl
Innerchr7:53422386..53557744hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38135359
hg19135359
hg18135359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11348n54
Supporting Variantsnssv1154941, nssv1154940
SamplesHGDP00407, HGDP01172
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607012
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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