A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv908249



Internal ID6270176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40489950..40711769hg19UCSC Ensembl
Outerchr17:40469598..40720632hg19UCSC Ensembl
Innerchr17:37743476..37965295hg18UCSC Ensembl
Outerchr17:37723124..37974158hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1597887
SamplesIS41317
Known GenesATP6V0A1, COASY, HSD17B1, MLX, NAGLU, PTRF, STAT3
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv908249
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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