A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597095



Internal ID16384504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:9902228..9928750hg38UCSC Ensembl
Innerchr5:9902340..9928862hg19UCSC Ensembl
Innerchr5:9955340..9981862hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3826523
hg1926523
hg1826523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9574n54
Supporting Variantsnssv1024204, nssv1024202, nssv1024209, nssv1024207, nssv1024203, nssv1024208, nssv1024206, nssv1153029, nssv1024205, nssv1153030, nssv1153028
Samples1780862516_A, HGDP00620, NINDS_203
Known GenesLOC285692
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597095
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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