A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137269



Internal ID18925047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:83892516..83892614hg38UCSC Ensembl
Outerchr1:84358199..84358297hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975963
SamplesKWS1
Known GenesMIR548AP, TTLL7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137269
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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