A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv737472



Internal ID15684742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228657499..229320129hg38UCSC Ensembl
Innerchr1:228793246..229455876hg19UCSC Ensembl
Innerchr1:226859869..227522499hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38662631
hg19662631
hg18662631
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549299
Supporting Variants
Samples
Known GenesRAB4A, RHOU, SPHAR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv737472
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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