A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467645



Internal ID15181024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1733170..2418537hg38UCSC Ensembl
Innerchr11:1754400..2439767hg19UCSC Ensembl
Innerchr11:1710976..2396343hg18UCSC Ensembl
Innerchr11:1710976..2396343hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38685368
hg19685368
hg18685368
hg17685368
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542865
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
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv467645
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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