A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv734943



Internal ID15682213
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 StatusS
Merged Variantsnsv549044
Supporting Variants
Samples
Known GenesMFSD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv734943
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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