A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126597



Internal ID18912719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:44651559..44651859hg38UCSC Ensembl
Outerchr20:43280200..43280500hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984856
SamplesKWS1
Known GenesADA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126597
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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