A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126212



Internal ID18924062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148225829..148237128hg38UCSC Ensembl
Outerchr1:147698100..147709400hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3811300
hg1911301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv186n106
Supporting Variantsnssv3984443
SamplesKWS1
Known GenesNBPF8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126212
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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