A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142976



Internal ID18905842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219080576..219080674hg38UCSC Ensembl
Outerchr2:219945298..219945396hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993796, nssv3988201
SamplesKWS1, KWS2
Known GenesNHEJ1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142976
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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