A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005179



Internal ID19094396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117441193..117517420hg38UCSC Ensembl
Innerchr1:117983815..118060042hg19UCSC Ensembl
Innerchr1:117785338..117861565hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3876228
hg1976228
hg1876228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv295n100
Supporting Variantsnssv3499148, nssv3495943
Samples
Known GenesMAN1A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005179
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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