A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549044



Internal ID15989767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:205556670..205599085hg38UCSC Ensembl
Innerchr1:205525798..205568213hg19UCSC Ensembl
Innerchr1:203792421..203834836hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3842416
hg1942416
hg1842416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv734943
Samples
Known GenesMFSD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549044
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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