A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977747



Internal ID18899876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:57931022..57938922hg38UCSC Ensembl
Outerchr6:58257300..58265200hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg387901
hg197901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124941
Supporting Variants
SamplesKWS2
Known GenesGUSBP4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977747
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