A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130984



Internal ID18928218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:213987357..213987857hg38UCSC Ensembl
Outerchr1:214160700..214161200hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967687
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130984
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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