A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013414



Internal ID19102632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48863255..48964788hg38UCSC Ensembl
Innerchr2:49090394..49191927hg19UCSC Ensembl
Innerchr2:48943898..49045431hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38101534
hg19101534
hg18101534
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3807n100
Supporting Variantsnssv3581642, nssv3581643
Samples
Known GenesFSHR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013414
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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