A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv871743



Internal ID6278754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:75239966..75711719hg19UCSC Ensembl
Outerchr1:75235082..75714554hg19UCSC Ensembl
Innerchr1:75012554..75484307hg18UCSC Ensembl
Outerchr1:75007670..75487142hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1564223
SamplesIS30181
Known GenesLHX8, SLC44A5
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv871743
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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