A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984443



Internal ID18872086
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 StatusS
Merged Variantsnsv1126212
Supporting Variants
SamplesKWS1
Known GenesNBPF8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984443
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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