A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607460



Internal ID16394869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72248750..72352914hg38UCSC Ensembl
Innerchr7:71713735..71817899hg19UCSC Ensembl
Innerchr7:71351671..71455835hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38104165
hg19104165
hg18104165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155850
SamplesHGDP00716
Known GenesCALN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607460
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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