A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129135



Internal ID19250579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152880905..152880986hg38UCSC Ensembl
Outerchr1:152853381..152853462hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961811
SamplesKWS1
Known GenesSMCP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129135
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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