A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064717



Internal ID19153936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42985791..43236801hg38UCSC Ensembl
Innerchr19:43489943..43740953hg19UCSC Ensembl
Innerchr19:48181783..48432793hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38251011
hg19251011
hg18251011
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3570200, nssv3723045, nssv3570202, nssv3723046, nssv3570199, nssv3570203, nssv3723044, nssv3570201, nssv3570204
Samples
Known GenesLOC284344, PSG11, PSG2, PSG4, PSG5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064717
Frequency
Sample Size11257
Observed Gain7
Observed Loss2
Observed Complex0
Frequencyn/a


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