A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007958



Internal ID18750489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:1615448..1853325hg38UCSC Ensembl
Innerchr2:1619220..1857097hg19UCSC Ensembl
Innerchr2:1598227..1836104hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38237878
hg19237878
hg18237878
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3726657
Samples
Known GenesMYT1L, PXDN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007958
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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