A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960521



Internal ID19210999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:143964843..144036551hg38UCSC Ensembl
Outerchr1:143906000..143977700hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3871709
hg1971701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128610
Supporting Variants
SamplesKWS1
Known GenesFAM72D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960521
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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