A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008383



Internal ID18750914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212852204..212941552hg38UCSC Ensembl
Innerchr1:213025546..213114894hg19UCSC Ensembl
Innerchr1:211092169..211181517hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3889349
hg1989349
hg1889349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3495949
Samples
Known GenesFLVCR1, FLVCR1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008383
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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