A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991111



Internal ID19218382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:102868076..102868211hg38UCSC Ensembl
Outerchr12:103261854..103261989hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138525
Supporting Variants
SamplesKWS1
Known GenesPAH
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991111
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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