A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950697



Internal ID17299571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:40392029..40404928hg38UCSC Ensembl
Outerchr1:40857701..40870600hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3812900
hg1912900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997133
SamplesBILGI_BIOE
Known GenesSMAP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950697
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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