A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009043



Internal ID18751574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232368341..232409435hg38UCSC Ensembl
Innerchr2:233233051..233274145hg19UCSC Ensembl
Innerchr2:232941295..232982389hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3841095
hg1941095
hg1841095
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586891
Samples
Known GenesALPP, ALPPL2, ECEL1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009043
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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