A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170002



Internal ID21314063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196758720..196940515hg38UCSC Ensembl
Outerchr1:196745743..196944667hg38UCSC Ensembl
Innerchr1:196727850..196909645hg19UCSC Ensembl
Outerchr1:196714873..196913797hg19UCSC Ensembl
Innerchr1:194994473..195176268hg18UCSC Ensembl
Outerchr1:194981496..195180420hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38198925
hg19198925
hg18198925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14245506, nssv14242737, nssv14244286, nssv14244854, nssv14247368, nssv14251503, nssv14248085, nssv14247642, nssv14245515, nssv14250909, nssv14243792, nssv14245898, nssv14247704, nssv14250379, nssv14250174, nssv14249916, nssv14251505, nssv14242872, nssv14249205, nssv14241533, nssv14243019, nssv14250917, nssv14249983, nssv14249275
SamplesNGO_37, SNI_10, NGO_9, NGO_4, PML_3, NGO_50, PML_2, SNI_16, NGO_25, NGO_6, MLY_3, MLY_8, NGO_1, SNI_15, NGO_5, NGO_7
Known GenesCFH, CFHR1, CFHR2, CFHR3, CFHR4
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170002
Frequency
Sample Size93
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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