A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549191



Internal ID15989914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215749518..215774066hg38UCSC Ensembl
Innerchr1:215922860..215947408hg19UCSC Ensembl
Innerchr1:213989483..214014031hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3824549
hg1924549
hg1824549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174044
Samples1780854261_A
Known GenesUSH2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549191
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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