A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv872457



Internal ID6279468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155149718..155282829hg19UCSC Ensembl
Outerchr1:155135335..155310443hg19UCSC Ensembl
Innerchr1:153416342..153549453hg18UCSC Ensembl
Outerchr1:153401959..153577067hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1546465
SamplesMS17208
Known GenesASH1L, CLK2, FAM189B, FDPS, GBA, GBAP1, HCN3, KRTCAP2, MIR92B, MTX1, MUC1, PKLR, RUSC1, RUSC1-AS1, SCAMP3, THBS3, TRIM46
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv872457
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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