A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001929



Internal ID19091146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230315169..230393888hg38UCSC Ensembl
Innerchr2:231179884..231258603hg19UCSC Ensembl
Innerchr2:230888128..230966847hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3878720
hg1978720
hg1878720
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586865, nssv3586866
Samples
Known GenesSP140L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001929
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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