A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977372



Internal ID19245446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:86655477..86669377hg38UCSC Ensembl
Outerchr2:86882600..86896500hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3813901
hg1913901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115563
Supporting Variants
SamplesKWS2
Known GenesRNF103-CHMP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977372
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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