A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015830



Internal ID18758364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69550464..71095346hg38UCSC Ensembl
Innerchr5:68846291..70391173hg19UCSC Ensembl
Innerchr5:68882047..70426929hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381544883
hg191544883
hg181544883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5696n100
Supporting Variantsnssv3640805, nssv3640804
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, NAIP, OCLN, 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)nsv1015830
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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