A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143500



Internal ID18938126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:43076852..43077552hg38UCSC Ensembl
Outerchr10:43572300..43573000hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980705
SamplesKWS1
Known GenesRET
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143500
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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