A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117767



Internal ID18933600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148418491..148418548hg38UCSC Ensembl
Outerchr7:148115583..148115640hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957910
SamplesKWS1
Known GenesCNTNAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117767
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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