A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002783



Internal ID19092000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:185164255..185309336hg38UCSC Ensembl
Innerchr2:186028982..186174063hg19UCSC Ensembl
Innerchr2:185737227..185882308hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38145082
hg19145082
hg18145082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4124n100
Supporting Variantsnssv3583248, nssv3729294
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002783
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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