A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170228



Internal ID21314289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:667013..696285hg38UCSC Ensembl
Outerchr12:663075..698884hg38UCSC Ensembl
Innerchr12:776179..805451hg19UCSC Ensembl
Outerchr12:772241..808050hg19UCSC Ensembl
Innerchr12:646440..675712hg18UCSC Ensembl
Outerchr12:642502..678311hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3835810
hg1935810
hg1835810
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14243364
SamplesMLY_4
Known GenesNINJ2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170228
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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