A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149521



Internal ID18854902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124339659..124339752hg38UCSC Ensembl
Outerchr12:124824205..124824298hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000820
SamplesKWB1
Known GenesNCOR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149521
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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