A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008840



Internal ID19098058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:242049101..242147293hg38UCSC Ensembl
Innerchr2:242991252..243089444hg19UCSC Ensembl
Innerchr2:242639925..242738117hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3898193
hg1998193
hg1898193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4215n100
Supporting Variantsnssv3589896, nssv3589900, nssv3589901, nssv3589898, nssv3589897, nssv3589899
Samples
Known GenesLOC728323
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008840
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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