A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3965514



Internal ID18889541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:72670085..75273877hg38UCSC Ensembl
Outerchr15:72962426..75566218hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg382603793
hg192603793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1121512
Supporting Variants
SamplesKWS2
Known GenesADPGK, ADPGK-AS1, ARID3B, BBS4, C15orf39, C15orf59, C15orf60, CCDC33, CD276, CLK3, COX5A, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, FAM219B, GOLGA6A, GOLGA6C, HCN4, HIGD2B, ISLR, ISLR2, LMAN1L, LOC283731, LOC729739, LOXL1, LOXL1-AS1, MIR4513, MIR6881, MIR6882, MPI, NEO1, NPTN, NPTN-IT1, PML, PPCDC, RPP25, SCAMP2, SCAMP5, SEMA7A, STOML1, STRA6, TBC1D21, UBL7, UBL7-AS1, ULK3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3965514
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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