A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150282



Internal ID19200363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75299871..75307447hg38UCSC Ensembl
Outerchr7:74928999..74936600hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387577
hg197602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4003581
SamplesKWB1
Known GenesPMS2P5, SPDYE8P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150282
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer