A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056168



Internal ID18798699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6890127..7103531hg38UCSC Ensembl
Innerchr19:6890138..7103542hg19UCSC Ensembl
Innerchr19:6841138..7054542hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38213405
hg19213405
hg18213405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3421n100
Supporting Variantsnssv3564627, nssv3564626, nssv3723262, nssv3564629, nssv3723261, nssv3723263, nssv3564630, nssv3564628
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)nsv1056168
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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