A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003384



Internal ID19092602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97360488..97654421hg38UCSC Ensembl
Innerchr2:98013814..98270884hg19UCSC Ensembl
Innerchr2:97379953..97637316hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38293934
hg19257071
hg18257364
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4026n100
Supporting Variantsnssv3580036
Samples
Known GenesANKRD36B, COX5B, LOC100506076, LOC100506123
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003384
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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