A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977078



Internal ID19244992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:143967373..144028855hg38UCSC Ensembl
Outerchr1:120782100..120843600hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3861483
hg1961501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139490
Supporting Variants
SamplesKWS2
Known GenesFAM72B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977078
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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