A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559977



Internal ID16000700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99895704..99897705hg38UCSC Ensembl
Innerchr12:100289482..100291483hg19UCSC Ensembl
Innerchr12:98813613..98815614hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382002
hg192002
hg182002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2828n54
Supporting Variantsnssv801518, nssv801512, nssv801513, nssv801511, nssv801520, nssv801517, nssv801515, nssv801516, nssv801521, nssv801514, nssv801519
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559977
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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