A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993034



Internal ID18880611
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 StatusS
Merged Variantsnsv1141527
Supporting Variants
SamplesKWS2
Known GenesPMS2CL, RSPH10B, RSPH10B2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993034
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer