A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012647



Internal ID19101864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75400451..75537642hg38UCSC Ensembl
Innerchr3:75449602..75586793hg19UCSC Ensembl
Innerchr3:75532292..75669483hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38137192
hg19137192
hg18137192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4783n100
Supporting Variantsnssv3596116, nssv3596115, nssv3596114
Samples
Known GenesFAM86DP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012647
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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