A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170229



Internal ID21314290
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14241587, nssv14252311, nssv14242712
SamplesMLY_12, MLY_8, MLY_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)nsv3170229
Frequency
Sample Size93
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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