A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119991



Internal ID18927578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:116146627..116146692hg38UCSC Ensembl
Outerchr12:116584432..116584497hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982996
SamplesKWS1
Known GenesMED13L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119991
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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