A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992654



Internal ID19246657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149076899..149107536hg38UCSC Ensembl
Outerchr1:144589700..144622000hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3830638
hg1932301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141147
Supporting Variants
SamplesKWS2
Known GenesLOC100288142, NBPF8, NBPF9, PFN1P2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992654
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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