A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141527



Internal ID18934332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:6748969..6755069hg38UCSC Ensembl
Outerchr7:6788600..6794700hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg386101
hg196101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993034
SamplesKWS2
Known GenesPMS2CL, RSPH10B, RSPH10B2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141527
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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