A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976647



Internal ID19239110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149614564..149616317hg38UCSC Ensembl
Outerchr1:149583700..149585500hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg381754
hg191801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124593
Supporting Variants
SamplesKWS2
Known GenesLINC00623, LINC00869
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976647
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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