A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009424



Internal ID19098642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205104414..205213516hg38UCSC Ensembl
Innerchr2:205969138..206078240hg19UCSC Ensembl
Innerchr2:205677383..205786485hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38109103
hg19109103
hg18109103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4154n100
Supporting Variantsnssv3585564
Samples
Known GenesPARD3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009424
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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