A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252311



Internal ID21303649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16559640..16660356hg38UCSC Ensembl
Outerchr1:16544783..16679239hg38UCSC Ensembl
Innerchr1:16886135..16986851hg19UCSC Ensembl
Outerchr1:16871278..17005734hg19UCSC Ensembl
Innerchr1:16758722..16859438hg18UCSC Ensembl
Outerchr1:16743865..16878321hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38134457
hg19134457
hg18134457
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170229
Supporting Variants
SamplesMLY_8
Known GenesCROCCP2, LOC729574, MIR3675, MST1P2, NBPF1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14252311
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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