A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14245696



Internal ID21310785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:135968997..136057059hg38UCSC Ensembl
Outerchr2:135961653..136057628hg38UCSC Ensembl
Innerchr2:136726567..136814629hg19UCSC Ensembl
Outerchr2:136719223..136815198hg19UCSC Ensembl
Innerchr2:136443037..136531099hg18UCSC Ensembl
Outerchr2:136435693..136531668hg18UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3895976
hg1995976
hg1895976
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169466
Supporting Variants
SamplesPML_1
Known GenesDARS
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14245696
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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