A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117766



Internal ID18901342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:147905807..147905884hg38UCSC Ensembl
Outerchr7:147602899..147602976hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957909
SamplesKWS1
Known GenesCNTNAP2, MIR548F3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117766
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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