A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000319



Internal ID19089536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143714487..143783819hg38UCSC Ensembl
Innerchr1:149209144..149278459hg19UCSC Ensembl
Innerchr1:147475768..147545083hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3869333
hg1969316
hg1869316
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3493529, nssv3501604
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000319
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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