A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000044



Internal ID18742575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15823408..15900936hg38UCSC Ensembl
Innerchr1:16149903..16227431hg19UCSC Ensembl
Innerchr1:16022490..16100018hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3877529
hg1977529
hg1877529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv37n100
Supporting Variantsnssv3463983
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)nsv1000044
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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