A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029715



Internal ID19118934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:103145965..103196218hg38UCSC Ensembl
Innerchr5:102481669..102531919hg19UCSC Ensembl
Innerchr5:102509568..102559818hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3850254
hg1950251
hg1850251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5751n100
Supporting Variantsnssv3645906, nssv3645907
Samples
Known GenesPPIP5K2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029715
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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