A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002485



Internal ID18745017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109348250..109392057hg38UCSC Ensembl
Innerchr1:109890872..109934679hg19UCSC Ensembl
Innerchr1:109692395..109736202hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3843808
hg1943808
hg1843808
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv252n100
Supporting Variantsnssv3501499
Samples
Known GenesSORT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002485
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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