A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004048



Internal ID19093265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:185438570..185676776hg38UCSC Ensembl
Innerchr2:186303297..186541503hg19UCSC Ensembl
Innerchr2:186011542..186249748hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38238207
hg19238207
hg18238207
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583252, nssv3583253, nssv3583254
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)nsv1004048
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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