A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048424



Internal ID18790955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34421910..34522329hg38UCSC Ensembl
Innerchr15:34714111..34814530hg19UCSC Ensembl
Innerchr15:32501403..32601822hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38100420
hg19100420
hg18100420
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2562n100
Supporting Variantsnssv3721757, nssv3721769, nssv3721761, nssv3721768, nssv3548920, nssv3548923, nssv3548908, nssv3548916, nssv3548909, nssv3548922, nssv3721758, nssv3548917, nssv3548910, nssv3548911, nssv3721772, nssv3721760, nssv3548921, nssv3721762, nssv3721765, nssv3721773, nssv3721770, nssv3721764, nssv3548919, nssv3721759, nssv3721767, nssv3721763, nssv3548918, nssv3548912, nssv3548913, nssv3548914, nssv3721771, nssv3721766, nssv3548915
Samples
Known GenesGOLGA8A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048424
Frequency
Sample Size29084
Observed Gain2
Observed Loss31
Observed Complex0
Frequencyn/a


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