A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008304



Internal ID18750835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247895273..248661824hg38UCSC Ensembl
Innerchr1:248058575..248825125hg19UCSC Ensembl
Innerchr1:246125198..246891748hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38766552
hg19766551
hg18766551
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv607n100
Supporting Variantsnssv3495836
Samples
Known GenesOR14C36, OR2AK2, OR2G6, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008304
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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