A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015117



Internal ID19104334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:4650527..4751508hg38UCSC Ensembl
Innerchr2:4698117..4799098hg19UCSC Ensembl
Innerchr2:4675992..4776973hg18UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38100982
hg19100982
hg18100982
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3576921
Samples
Known GenesLOC727982
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015117
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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