A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170084



Internal ID21314145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:783283..915307hg38UCSC Ensembl
Outerchr1:777165..939522hg38UCSC Ensembl
Innerchr1:718663..850687hg19UCSC Ensembl
Outerchr1:712545..874902hg19UCSC Ensembl
Innerchr1:708526..840550hg18UCSC Ensembl
Outerchr1:702408..864765hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38162358
hg19162358
hg18162358
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14241083, nssv14246610, nssv14248522, nssv14243384, nssv14247700
SamplesMLY_1, NGO_18, NGO_17, MLY_2, NGO_55
Known GenesFAM41C, FAM87B, LINC00115, LINC01128, LOC100130417, LOC100288069, SAMD11
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170084
Frequency
Sample Size93
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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