A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144248



Internal ID18918668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:14313001..14315001hg38UCSC Ensembl
Outerchr9:14313000..14315000hg19UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994981
SamplesKWS1
Known GenesNFIB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144248
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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