A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242712



Internal ID21303196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16542868..16660356hg38UCSC Ensembl
Outerchr1:16525019..16679239hg38UCSC Ensembl
Innerchr1:16869363..16986851hg19UCSC Ensembl
Outerchr1:16851514..17005734hg19UCSC Ensembl
Innerchr1:16741950..16859438hg18UCSC Ensembl
Outerchr1:16724101..16878321hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38154221
hg19154221
hg18154221
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170229
Supporting Variants
SamplesMLY_4
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)nssv14242712
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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