A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548556



Internal ID16335965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190666650..190710720hg38UCSC Ensembl
Innerchr1:190635780..190679850hg19UCSC Ensembl
Innerchr1:188902403..188946473hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3844071
hg1944071
hg1844071
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173968
SamplesNINDS_94
Known GenesLOC440704
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548556
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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