A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116389



Internal ID19261418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:85666341..85666403hg38UCSC Ensembl
Outerchr2:85893464..85893526hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955533
SamplesKWS1
Known GenesSFTPB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116389
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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