A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553633



Internal ID15994356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18290154..19036904hg38UCSC Ensembl
Innerchr11:18311701..19058451hg19UCSC Ensembl
Innerchr11:18268277..19015027hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38746751
hg19746751
hg18746751
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv768568
Samples
Known GenesGTF2H1, HPS5, IGSF22, LDHA, LDHAL6A, LDHC, MRGPRX1, PTPN5, SPTY2D1, SPTY2D1-AS1, TMEM86A, TSG101, UEVLD
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553633
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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