A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016777



Internal ID19105994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69571455..71011705hg38UCSC Ensembl
Innerchr5:68867282..70307532hg19UCSC Ensembl
Innerchr5:68903038..70343288hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381440251
hg191440251
hg181440251
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5697n100
Supporting Variantsnssv3640883, nssv3640885, nssv3640886, nssv3640882, nssv3640887, nssv3640890, nssv3640884, nssv3640880, nssv3640889, nssv3747257, nssv3640888, nssv3747259, nssv3640891, nssv3747258, nssv3640881
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016777
Frequency
Sample Size11257
Observed Gain2
Observed Loss13
Observed Complex0
Frequencyn/a


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