A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003690



Internal ID18746221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232384425..232409435hg38UCSC Ensembl
Innerchr2:233249135..233274145hg19UCSC Ensembl
Innerchr2:232957379..232982389hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3825011
hg1925011
hg1825011
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729375, nssv3586901, nssv3586900, nssv3586899, nssv3586902
Samples
Known GenesALPPL2, ECEL1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003690
Frequency
Sample Size29084
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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