A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064483



Internal ID18807014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28620264..28857362hg38UCSC Ensembl
Innerchr16:28631585..28868683hg19UCSC Ensembl
Innerchr16:28539086..28776184hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38237099
hg19237099
hg18237099
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3549145
Samples
Known GenesATXN2L, EIF3C, EIF3CL, MIR4721, MIR6862-1, MIR6862-2, SULT1A1, TUFM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064483
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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