A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987084



Internal ID18861967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148568311..148570099hg38UCSC Ensembl
Outerchr1:148298700..148300500hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg381789
hg191801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132313
Supporting Variants
SamplesKWS1
Known GenesLOC101929780, NBPF14, NBPF8, NBPF9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987084
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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