A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065576



Internal ID18808107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6890127..7097616hg38UCSC Ensembl
Innerchr19:6890138..7097627hg19UCSC Ensembl
Innerchr19:6841138..7048627hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38207490
hg19207490
hg18207490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3421n100
Supporting Variantsnssv3564624, nssv3564623
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)nsv1065576
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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