A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169954



Internal ID21314015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248555302..248647345hg38UCSC Ensembl
Outerchr1:248550690..248650779hg38UCSC Ensembl
Innerchr1:248718603..248810646hg19UCSC Ensembl
Outerchr1:248713991..248814080hg19UCSC Ensembl
Innerchr1:246785226..246877269hg18UCSC Ensembl
Outerchr1:246780614..246880703hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38100090
hg19100090
hg18100090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14250720, nssv14243031, nssv14241284, nssv14246678, nssv14241188, nssv14245093, nssv14249112, nssv14247109, nssv14246683, nssv14245700, nssv14249389, nssv14244575, nssv14247182, nssv14251170, nssv14245240, nssv14251465, nssv14245330, nssv14249110, nssv14241414, nssv14247638, nssv14240784, nssv14244561, nssv14243583, nssv14243157, nssv14244585, nssv14250648, nssv14242286, nssv14245935, nssv14241158, nssv14241133, nssv14243902, nssv14249661, nssv14243645, nssv14241050, nssv14244098
SamplesSNI_2, MLY_6, SNI_8, MLY_1, NGO_37, NGO_53, SNI_7, NGO_29, NGO_10, NGO_46, NGO_45, NGO_54, NGO_31, NGO_39, NGO_14, NGO_20, NGO_26, NGO_47, NGO_40, MLY_2, SNI_16, NGO_25, NGO_16, SNI_12, SNI_3, NGO_52, NGO_36, SNI_5, NGO_49, SNI_6, NGO_42, NGO_34, NGO_8, NGO_11, NGO_38
Known GenesOR2T10, OR2T11, OR2T27, OR2T29, OR2T34, OR2T35
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169954
Frequency
Sample Size93
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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