A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998029



Internal ID19157566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:209886968..209974035hg38UCSC Ensembl
Innerchr2:210751692..210838759hg19UCSC Ensembl
Innerchr2:210459937..210547004hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3887068
hg1987068
hg1887068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585612
Samples
Known GenesUNC80
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998029
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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