A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558574



Internal ID16345983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37848227..38793606hg38UCSC Ensembl
Innerchr12:38242029..39187408hg19UCSC Ensembl
Innerchr12:36528296..37473675hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38945380
hg19945380
hg18945380
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175464
SamplesNINDS_6
Known GenesALG10B, CPNE8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558574
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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