A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064100



Internal ID18806631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6885300..7103531hg38UCSC Ensembl
Innerchr19:6885311..7103542hg19UCSC Ensembl
Innerchr19:6836311..7054542hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38218232
hg19218232
hg18218232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3421n100
Supporting Variantsnssv3723257
Samples
Known GenesEMR1, EMR4P, FLJ25758, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064100
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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