A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137279



Internal ID19283478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:121616772..121736586hg38UCSC Ensembl
Outerchr1:121358570..121478384hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38119815
hg19119815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975973
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137279
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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