A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996276



Internal ID18847581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:36363330..36363391hg38UCSC Ensembl
Outerchr6:36331107..36331168hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150801
Supporting Variants
SamplesKWB1
Known GenesETV7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996276
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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