A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049386



Internal ID18791917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67744858..67939887hg38UCSC Ensembl
Innerchr11:67512329..67707358hg19UCSC Ensembl
Innerchr11:67268905..67463934hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38195030
hg19195030
hg18195030
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1216n100
Supporting Variantsnssv3512562, nssv3508675
Samples
Known GenesFAM86C2P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049386
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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