A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv185n106



Internal ID19018294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148132317..148222230hg38UCSC Ensembl
chr1:147604600..147694500hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3889914
hg1989901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1143459, nsv1121777
SamplesKWS1, KWS2
Known GenesNBPF11, NBPF24, NBPF8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv185n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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