A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138129



Internal ID19265463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:45972869..45972929hg38UCSC Ensembl
Outerchr12:46366652..46366712hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3995476, nssv3971315
SamplesKWS2, KWS1
Known GenesSCAF11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138129
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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