A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124248



Internal ID19264207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100117363..100117433hg38UCSC Ensembl
Outerchr7:99714986..99715056hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975554
SamplesKWS2
Known GenesTAF6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124248
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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