A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004459



Internal ID18746990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70824987..70955770hg38UCSC Ensembl
Innerchr2:71052118..71182900hg19UCSC Ensembl
Innerchr2:70905626..71036408hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38130784
hg19130783
hg18130783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3577287
Samples
Known GenesATP6V1B1, CD207, VAX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004459
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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