A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017671



Internal ID19106888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69550464..71011705hg38UCSC Ensembl
Innerchr5:68846291..70307532hg19UCSC Ensembl
Innerchr5:68882047..70343288hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381461242
hg191461242
hg181461242
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5697n100
Supporting Variantsnssv3640802, nssv3747237, nssv3640800, nssv3747239, nssv3640803, nssv3747238, nssv3640801
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)nsv1017671
Frequency
Sample Size11257
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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