A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123558



Internal ID18926965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37122916..37122970hg38UCSC Ensembl
Outerchr21:38495216..38495270hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991636, nssv3956137
SamplesKWS1, KWS2
Known GenesTTC3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123558
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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