A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547963



Internal ID15988686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155208955..155236376hg38UCSC Ensembl
Innerchr1:155178746..155206167hg19UCSC Ensembl
Innerchr1:153445370..153472791hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3827422
hg1927422
hg1827422
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv724906
Samples
Known GenesGBA, GBAP1, MTX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547963
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer