A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013206



Internal ID18755737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:213267855..213302172hg38UCSC Ensembl
Innerchr2:214132579..214166896hg19UCSC Ensembl
Innerchr2:213840824..213875141hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3834318
hg1934318
hg1834318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585673
Samples
Known GenesLOC100130451, SPAG16
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013206
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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