A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121823



Internal ID18914812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:120466488..120469388hg38UCSC Ensembl
Outerchr10:122226000..122228900hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg382901
hg192901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968473
SamplesKWS2
Known GenesPPAPDC1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121823
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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