A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007052



Internal ID19096270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:185576655..185999663hg38UCSC Ensembl
Innerchr2:186441382..186864390hg19UCSC Ensembl
Innerchr2:186149627..186572635hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38423009
hg19423009
hg18423009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4128n100
Supporting Variantsnssv3583259, nssv3729296, nssv3583260
Samples
Known GenesFSIP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007052
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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