A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549192



Internal ID15989915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215794515..215861411hg38UCSC Ensembl
Innerchr1:215967857..216034753hg19UCSC Ensembl
Innerchr1:214034480..214101376hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3866897
hg1966897
hg1866897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv736956
Samples
Known GenesUSH2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549192
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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