A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142063



Internal ID18921184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:85512386..85540009hg38UCSC Ensembl
Outerchr1:85978069..86005692hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3827624
hg1927624
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983640, nssv3960963
SamplesKWS2, KWS1
Known GenesDDAH1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142063
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer