A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3005039



Internal ID16951305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:62686169..62686503hg38UCSC Ensembl
Outerchr1:63151840..63152174hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv958629
Supporting Variants
SamplesBILGI_BIOE
Known GenesDOCK7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3005039
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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