A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005932



Internal ID18748463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15826990..15900936hg38UCSC Ensembl
Innerchr1:16153485..16227431hg19UCSC Ensembl
Innerchr1:16026072..16100018hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3873947
hg1973947
hg1873947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv37n100
Supporting Variantsnssv3472340, nssv3472191, nssv3463657, nssv3481971, nssv3481303, nssv3476435
Samples
Known GenesFLJ37453, SPEN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005932
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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