A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012048



Internal ID18754584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:184944826..184990835hg38UCSC Ensembl
Innerchr1:184913958..184959967hg19UCSC Ensembl
Innerchr1:183180581..183226590hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3846010
hg1946010
hg1846010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3492232
Samples
Known GenesFAM129A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012048
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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