A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031087



Internal ID18773620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69779138..71095414hg38UCSC Ensembl
Innerchr5:69074965..70391241hg19UCSC Ensembl
Innerchr5:69110721..70426997hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381316277
hg191316277
hg181316277
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5697n100
Supporting Variantsnssv3747296, nssv3747295, nssv3747302, nssv3641027, nssv3641037, nssv3641031, nssv3747304, nssv3641022, nssv3747297, nssv3641006, nssv3641041, nssv3641005, nssv3641021, nssv3641014, nssv3641003, nssv3641043, nssv3641010, nssv3747299, nssv3641012, nssv3641029, nssv3747303, nssv3641044, nssv3641020, nssv3641024, nssv3641004, nssv3641019, nssv3641035, nssv3641007, nssv3641026, nssv3641034, nssv3747294, nssv3747301, nssv3747298, nssv3641042, nssv3641032, nssv3641030, nssv3641009, nssv3641008, nssv3641018, nssv3747300, nssv3641015, nssv3641039, nssv3641023, nssv3641016, nssv3641013, nssv3641028, nssv3641040, nssv3641011, nssv3641038, nssv3641025, nssv3641017, nssv3641033, nssv3641036
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)nsv1031087
Frequency
Sample Size29084
Observed Gain44
Observed Loss9
Observed Complex0
Frequencyn/a


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