A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553047



Internal ID15993770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1733170..2418537hg38UCSC Ensembl
Innerchr11:1754400..2439767hg19UCSC Ensembl
Innerchr11:1710976..2396343hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38685368
hg19685368
hg18685368
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174279
Samples1780854483_A
Known GenesASCL2, C11orf21, CD81, CD81-AS1, CTSD, H19, IFITM10, IGF2, IGF2-AS, INS, INS-IGF2, LSP1, MIR4298, MIR4686, MIR483, MIR675, MOB2, MRPL23, MRPL23-AS1, SYT8, TH, TNNI2, TNNT3, TRPM5, TSPAN32, TSSC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553047
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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