A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976634



Internal ID19235626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148990274..149076813hg38UCSC Ensembl
Outerchr1:144810800..144894200hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3886540
hg1983401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124580
Supporting Variants
SamplesKWS2
Known GenesLOC100288142, NBPF8, NBPF9, PDE4DIP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976634
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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