A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14244500



Internal ID21306122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:7435313..7476823hg38UCSC Ensembl
Outerchr1:7432931..7477440hg38UCSC Ensembl
Innerchr1:7495373..7536883hg19UCSC Ensembl
Outerchr1:7492991..7537500hg19UCSC Ensembl
Innerchr1:7417960..7459470hg18UCSC Ensembl
Outerchr1:7415578..7460087hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3844510
hg1944510
hg1844510
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170261
Supporting Variants
SamplesNGO_25
Known GenesCAMTA1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14244500
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