A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129128



Internal ID18927844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:20294634..20294701hg38UCSC Ensembl
Outerchr1:20621127..20621194hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961804
SamplesKWS1
Known GenesVWA5B1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129128
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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