A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014147



Internal ID19103367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:98238544..98261581hg38UCSC Ensembl
Innerchr2:98855007..98878044hg19UCSC Ensembl
Innerchr2:98221439..98244476hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3823038
hg1923038
hg1823038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4028n100
Supporting Variantsnssv3580049
Samples
Known GenesVWA3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014147
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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