A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595943



Internal ID16383352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:161099011..161169603hg38UCSC Ensembl
Innerchr4:162020163..162090755hg19UCSC Ensembl
Innerchr4:162239613..162310205hg18UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg3870593
hg1970593
hg1870593
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9355n54
Supporting Variantsnssv1010285, nssv1010283, nssv1010288, nssv1152973, nssv1010284, nssv1010287, nssv1152974, nssv1010286
Samples1780854179_A, NINDS_180
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595943
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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