A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581489



Internal ID16022212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38728835..38743837hg38UCSC Ensembl
Innerchr2:38955977..38970979hg19UCSC Ensembl
Innerchr2:38809481..38824483hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3815003
hg1915003
hg1815003
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6790n54
Supporting Variantsnssv906880, nssv906881
Samples
Known GenesGALM, SRSF7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581489
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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