A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169461



Internal ID21313944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:6871678..7436701hg38UCSC Ensembl
Outerchr18:6868500..7437606hg38UCSC Ensembl
Innerchr18:6871677..7436699hg19UCSC Ensembl
Outerchr18:6868499..7437604hg19UCSC Ensembl
Innerchr18:6861677..7426699hg18UCSC Ensembl
Outerchr18:6858499..7427604hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38569107
hg19569106
hg18569106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14242619, nssv14240960, nssv14247116, nssv14245473
SamplesNGO_10, NGO_49, SNI_4
Known GenesARHGAP28, LAMA1, LINC00668, LRRC30
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169461
Frequency
Sample Size93
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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