A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960524



Internal ID19222442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149076899..149107536hg38UCSC Ensembl
Outerchr1:144589700..144622300hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3830638
hg1932601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128613
Supporting Variants
SamplesKWS1
Known GenesLOC100288142, NBPF8, NBPF9, PFN1P2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960524
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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