A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057814



Internal ID19147033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42795265..43029369hg38UCSC Ensembl
Innerchr19:43299417..43533521hg19UCSC Ensembl
Innerchr19:47991257..48225361hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38234105
hg19234105
hg18234105
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3565n100
Supporting Variantsnssv3569531, nssv3569530, nssv3569529, nssv3569528, nssv3569532, nssv3569533
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057814
Frequency
Sample Size11257
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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