A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169781



Internal ID21313592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143538619..143942271hg38UCSC Ensembl
Outerchr1:143538619..144572337hg38UCSC Ensembl
Innerchr1:149024802..149436842hg19UCSC Ensembl
Outerchr1:148953996..149521840hg19UCSC Ensembl
Innerchr1:147291426..147703466hg18UCSC Ensembl
Outerchr1:147220620..147788464hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381033719
hg19567845
hg18567845
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14244280, nssv14244571, nssv14245407, nssv14248334, nssv14242476, nssv14243603, nssv14252461, nssv14251336, nssv14243142, nssv14244826, nssv14247514, nssv14242776, nssv14251969, nssv14243825, nssv14241191, nssv14240919, nssv14249111, nssv14250309, nssv14244057, nssv14243909, nssv14245184, nssv14242957, nssv14245539, nssv14241431, nssv14241937, nssv14247380, nssv14250122, nssv14243441, nssv14252455, nssv14252277, nssv14246256, nssv14251198, nssv14245324, nssv14245387, nssv14248017, nssv14247291, nssv14248934
SamplesNGO_3, NGO_22, SNI_13, SNI_8, MLY_1, SNI_11, NGO_12, MLY_12, NGO_53, SNI_10, NGO_29, NGO_32, NGO_10, NGO_45, NGO_17, MLY_13, SNI_9, NGO_24, NGO_31, PML_3, NGO_50, NGO_39, NGO_14, NGO_33, MLY_8, PML_4, SNI_12, NGO_52, NGO_55, NGO_36, NGO_34, NGO_38, SNI_4
Known GenesFCGR1C, LOC101929780, LOC388692, NBPF23
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169781
Frequency
Sample Size93
Observed Gain2
Observed Loss31
Observed Complex0
Frequencyn/a


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