A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119701



Internal ID18923974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:86498448..86498509hg38UCSC Ensembl
Outerchr1:86964131..86964192hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982156
SamplesKWS1
Known GenesCLCA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119701
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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