A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119710



Internal ID19259071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119849143..119849218hg38UCSC Ensembl
Outerchr1:120391766..120391841hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982632
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119710
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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