A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134678



Internal ID18908140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76704305..76704373hg38UCSC Ensembl
Outerchr17:74700387..74700455hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972555
SamplesKWS2
Known GenesMXRA7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134678
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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