A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170296



Internal ID21314357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12358500..12705483hg38UCSC Ensembl
Outerchr8:12340745..12709141hg38UCSC Ensembl
Innerchr8:12216009..12562992hg19UCSC Ensembl
Outerchr8:12198254..12566650hg19UCSC Ensembl
Innerchr8:12260380..12607363hg18UCSC Ensembl
Outerchr8:12242625..12611021hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38368397
hg19368397
hg18368397
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14245950, nssv14250640, nssv14247550, nssv14243881, nssv14242471, nssv14250302, nssv14249056, nssv14249999, nssv14240933, nssv14242909
SamplesNGO_22, MLY_5, MLY_1, NGO_18, NGO_19, MLY_8, PML_4, NGO_36, SNI_5, NGO_34
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170296
Frequency
Sample Size93
Observed Gain3
Observed Loss7
Observed Complex0
Frequencyn/a


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