A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999197



Internal ID19158733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130089421..130170931hg38UCSC Ensembl
Innerchr3:129808264..129889774hg19UCSC Ensembl
Innerchr3:131290954..131372464hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3881511
hg1981511
hg1881511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4892n100
Supporting Variantsnssv3607129
Samples
Known GenesALG1L2, FAM86HP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999197
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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