A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040788



Internal ID19130007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22572335..23192004hg38UCSC Ensembl
Innerchr15:22681064..23300761hg19UCSC Ensembl
Innerchr15:20232428..20852202hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38619670
hg19619698
hg18619775
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2405n100
Supporting Variantsnssv3715532, nssv3538858, nssv3538856, nssv3538857
Samples
Known GenesCYFIP1, GOLGA6L1, GOLGA8DP, GOLGA8I, HERC2P2, LOC283683, NIPA1, NIPA2, TUBGCP5, WHAMMP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040788
Frequency
Sample Size11257
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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