A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049256



Internal ID18791787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30338750..30488448hg38UCSC Ensembl
Innerchr15:30630953..30780651hg19UCSC Ensembl
Innerchr15:28418245..28567943hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38149699
hg19149699
hg18149699
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2522n100
Supporting Variantsnssv3546778, nssv3546780, nssv3546776, nssv3546777, nssv3546779
Samples
Known GenesCHRFAM7A, LOC101059918
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049256
Frequency
Sample Size29084
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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