A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000609



Internal ID18743140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232346988..232445348hg38UCSC Ensembl
Innerchr2:233211698..233310058hg19UCSC Ensembl
Innerchr2:232919942..233018302hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3898361
hg1998361
hg1898361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4182n100
Supporting Variantsnssv3729368, nssv3729369, nssv3586887, nssv3586888
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)nsv1000609
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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