A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013249



Internal ID19102467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117500135..117533905hg38UCSC Ensembl
Innerchr1:118042757..118076527hg19UCSC Ensembl
Innerchr1:117844280..117878050hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3833771
hg1933771
hg1833771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv296n100
Supporting Variantsnssv3497010
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)nsv1013249
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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