A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14241679



Internal ID21305830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:7346359..7476823hg38UCSC Ensembl
Outerchr1:7342442..7477440hg38UCSC Ensembl
Innerchr1:7406419..7536883hg19UCSC Ensembl
Outerchr1:7402502..7537500hg19UCSC Ensembl
Innerchr1:7329006..7459470hg18UCSC Ensembl
Outerchr1:7325089..7460087hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38134999
hg19134999
hg18134999
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170261
Supporting Variants
SamplesNGO_23
Known GenesCAMTA1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14241679
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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