A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137568



Internal ID19271157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:516463..519863hg38UCSC Ensembl
Outerchr7:556100..559500hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3990073
SamplesKWS2
Known GenesPDGFA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137568
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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