A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000317



Internal ID19089534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:89928002..90079966hg38UCSC Ensembl
Innerchr2:89966812..90118808hg19UCSC Ensembl
Innerchr2:89604119..89756113hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38151965
hg19151997
hg18151995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3973n100
Supporting Variantsnssv3580455
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)nsv1000317
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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