A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042653



Internal ID18785184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30438488..30687726hg38UCSC Ensembl
Innerchr15:30730691..30979929hg19UCSC Ensembl
Innerchr15:28517983..28767221hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38249239
hg19249239
hg18249239
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2525n100
Supporting Variantsnssv3721568, nssv3547582, nssv3547578, nssv3547583, nssv3547581, nssv3721567, nssv3547580, nssv3547579
Samples
Known GenesARHGAP11B, GOLGA8H, LOC100288637, ULK4P1, ULK4P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042653
Frequency
Sample Size29084
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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