A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002714



Internal ID19091931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:188069570..188160357hg38UCSC Ensembl
Innerchr2:188934297..189025084hg19UCSC Ensembl
Innerchr2:188642542..188733329hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3890788
hg1990788
hg1890788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729306
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002714
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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