A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008490



Internal ID18751021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28884768..29482018hg38UCSC Ensembl
Innerchr2:29107634..29704884hg19UCSC Ensembl
Innerchr2:28961138..29558388hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38597251
hg19597251
hg18597251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3579133, nssv3579134
Samples
Known GenesALK, C2orf71, CLIP4, FAM179A, SNORD53, SNORD92, WDR43
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008490
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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