A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170009



Internal ID21314070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:71303076..71304364hg38UCSC Ensembl
Outerchr8:71300130..71307628hg38UCSC Ensembl
Innerchr8:72215311..72216599hg19UCSC Ensembl
Outerchr8:72212365..72219863hg19UCSC Ensembl
Innerchr8:72377865..72379153hg18UCSC Ensembl
Outerchr8:72374919..72382417hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg387499
hg197499
hg187499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14241766, nssv14244217, nssv14251199, nssv14249961, nssv14248403, nssv14243041, nssv14245022, nssv14242539, nssv14242459, nssv14243874, nssv14243992, nssv14242778, nssv14246209, nssv14243061, nssv14243939, nssv14242460, nssv14245005, nssv14243062, nssv14244437, nssv14248616, nssv14243121, nssv14251868, nssv14249946, nssv14249145, nssv14250101, nssv14246343, nssv14248750, nssv14248855
SamplesNGO_13, NGO_21, NGO_3, SNI_2, MLY_6, NGO_53, NGO_29, NGO_32, NGO_10, NGO_43, NGO_54, PML_3, NGO_19, MLY_9, NGO_40, PML_2, SNI_16, NGO_6, PML_4, NGO_16, NGO_55, SNI_5, SNI_15, NGO_5, NGO_48, MLY_14, NGO_7, NGO_51
Known GenesEYA1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170009
Frequency
Sample Size93
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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