A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049714



Internal ID19138933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5766163..5787134hg38UCSC Ensembl
Innerchr11:5787393..5808364hg19UCSC Ensembl
Innerchr11:5743969..5764940hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3820972
hg1920972
hg1820972
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1049n100
Supporting Variantsnssv3513953, nssv3510505, nssv3517740, nssv3512430, nssv3507499, nssv3707276, nssv3707272, nssv3509082, nssv3707275, nssv3516258, nssv3517600, nssv3508403, nssv3512883, nssv3513712, nssv3707274, nssv3707278, nssv3707273, nssv3508987, nssv3514831, nssv3505862, nssv3505234, nssv3707279, nssv3521860, nssv3508347, nssv3505952, nssv3519964, nssv3516115, nssv3514022, nssv3707277, nssv3508565
Samples
Known GenesOR52N5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049714
Frequency
Sample Size11257
Observed Gain1
Observed Loss29
Observed Complex0
Frequencyn/a


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