A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005501



Internal ID19094718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207475081..207491016hg38UCSC Ensembl
Innerchr2:208339805..208355740hg19UCSC Ensembl
Innerchr2:208048050..208063985hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3815936
hg1915936
hg1815936
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4158n100
Supporting Variantsnssv3585573, nssv3585574
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)nsv1005501
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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