A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987043



Internal ID18874458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2652061..2700461hg38UCSC Ensembl
Outerchr1:2583500..2631900hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3848401
hg1948401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132276
Supporting Variants
SamplesKWS1
Known GenesTTC34
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987043
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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