A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691445



Internal ID15081411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228318038..228494048hg38UCSC Ensembl
Innerchr1:228505739..228681749hg19UCSC Ensembl
Innerchr1:226572362..226748372hg18UCSC Ensembl
Innerchr1:224812474..224988484hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38176011
hg19176011
hg18176011
hg17176011
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517545
Supporting Variants
Samples
Known GenesHIST3H2A, HIST3H2BB, HIST3H3, MIR4666A, MIR6742, OBSCN, RNF187, TRIM11, TRIM17
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691445
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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