A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv875014



Internal ID6282025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128190055..128305196hg19UCSC Ensembl
Outerchr2:128178415..128328375hg19UCSC Ensembl
Innerchr2:127906525..128021666hg18UCSC Ensembl
Outerchr2:127894885..128044845hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1556726
SamplesMS22146
Known GenesIWS1, MIR4783, MYO7B, PROC
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv875014
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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