A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000369



Internal ID18742900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232339649..232442126hg38UCSC Ensembl
Innerchr2:233204359..233306836hg19UCSC Ensembl
Innerchr2:232912603..233015080hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38102478
hg19102478
hg18102478
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4182n100
Supporting Variantsnssv3729367
Samples
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000369
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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