A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010473



Internal ID19099690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53140212..53188870hg38UCSC Ensembl
Innerchr1:53605884..53654542hg19UCSC Ensembl
Innerchr1:53378472..53427130hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3848659
hg1948659
hg1848659
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3701228
Samples
Known GenesSLC1A7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010473
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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