A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608149



Internal ID16048872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:110662639..110702956hg38UCSC Ensembl
Innerchr7:110302695..110343012hg19UCSC Ensembl
Innerchr7:110089931..110130248hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3840318
hg1940318
hg1840318
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11570n54
Supporting Variantsnssv1155370
SamplesNINDS_208
Known GenesIMMP2L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608149
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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