A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129137



Internal ID18934983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:165708126..165708202hg38UCSC Ensembl
Outerchr1:165677363..165677439hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961813
SamplesKWS1
Known GenesLOC440700
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129137
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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