A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130940



Internal ID18929391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:1539920..1540720hg38UCSC Ensembl
Outerchr1:1475300..1476100hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980312, nssv3966616
SamplesKWS1, KWS2
Known GenesTMEM240
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130940
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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