A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139023



Internal ID18906654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37645898..37645964hg38UCSC Ensembl
Outerchr21:39018200..39018266hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956514, nssv3991639
SamplesKWS1, KWS2
Known GenesKCNJ6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139023
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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