A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021204



Internal ID18763738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69779138..71095346hg38UCSC Ensembl
Innerchr5:69074965..70391173hg19UCSC Ensembl
Innerchr5:69110721..70426929hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381316209
hg191316209
hg181316209
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5696n100
Supporting Variantsnssv3641002
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, LOC647859, 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)nsv1021204
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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