A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009996



Internal ID19099215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:232458244..232487859hg38UCSC Ensembl
Innerchr1:232593990..232623605hg19UCSC Ensembl
Innerchr1:230660613..230690228hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3829616
hg1929616
hg1829616
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv583n100
Supporting Variantsnssv3489711
Samples
Known GenesSIPA1L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009996
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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