A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004315



Internal ID18746846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61971183..61981630hg38UCSC Ensembl
Innerchr1:62436855..62447302hg19UCSC Ensembl
Innerchr1:62209443..62219890hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3810448
hg1910448
hg1810448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv169n100
Supporting Variantsnssv3468263
Samples
Known GenesINADL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004315
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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