A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126321



Internal ID18933193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:112381896..112382296hg38UCSC Ensembl
Outerchr12:112819700..112820100hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984559
SamplesKWS1
Known GenesHECTD4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126321
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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