A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981947



Internal ID19225532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:140061900..140063500hg38UCSC Ensembl
Outerchr7:139761700..139763300hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381601
hg191601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119141
Supporting Variants
SamplesKWS1
Known GenesPARP12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981947
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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