A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976402



Internal ID19229625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120323083..120335118hg38UCSC Ensembl
Outerchr1:143725100..143737600hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3812036
hg1912501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115351
Supporting Variants
SamplesKWS2
Known GenesLINC00875, LINC01138
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976402
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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