A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557837



Internal ID16345246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27779899..27780963hg38UCSC Ensembl
Innerchr12:27932832..27933896hg19UCSC Ensembl
Innerchr12:27824099..27825163hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381065
hg191065
hg181065
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2425n54
Supporting Variantsnssv790025, nssv790020, nssv790022, nssv790011, nssv790021, nssv790024, nssv790017, nssv790030, nssv790019, nssv790013, nssv790028, nssv790031, nssv790023, nssv790032, nssv790018, nssv790027, nssv790012, nssv790010, nssv790029, nssv790015, nssv790026, nssv790016, nssv790014
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557837
Frequency
Sample Size17421
Observed Gain19
Observed Loss4
Observed Complex0
Frequencyn/a


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