A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169534



Internal ID21313767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31957787..31964286hg38UCSC Ensembl
Outerchr13:31957487..31965910hg38UCSC Ensembl
Innerchr13:32531924..32538423hg19UCSC Ensembl
Outerchr13:32531624..32540047hg19UCSC Ensembl
Innerchr13:31429924..31436423hg18UCSC Ensembl
Outerchr13:31429624..31438047hg18UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg388424
hg198424
hg188424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14242738, nssv14244634, nssv14244095, nssv14252087, nssv14246800, nssv14245884, nssv14242379, nssv14252377, nssv14244675, nssv14251122, nssv14242391, nssv14245335, nssv14248069, nssv14243512, nssv14246475, nssv14250137, nssv14248211, nssv14245863, nssv14241776, nssv14241374, nssv14243202, nssv14244975, nssv14252544, nssv14241600, nssv14249027, nssv14251724, nssv14250479, nssv14250592, nssv14245870
SamplesNGO_3, NGO_22, MLY_6, MLY_5, NGO_27, SNI_11, MLY_17, NGO_28, NGO_53, NGO_32, NGO_9, PML_1, SNI_9, PML_3, NGO_14, NGO_30, NGO_26, SNI_1, NGO_2, NGO_25, MLY_8, PML_4, NGO_55, NGO_23, SNI_5, MLY_14, NGO_11, NGO_38, SNI_4
Known GenesEEF1DP3
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169534
Frequency
Sample Size93
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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