A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145707



Internal ID19260929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:31485401..31485463hg38UCSC Ensembl
Outerchr14:31954607..31954669hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983411
SamplesKWS1
Known GenesGPR33
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145707
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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