A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972111



Internal ID19232909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:44414076..44414129hg38UCSC Ensembl
Outerchr17:42491444..42491497hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1123134
Supporting Variants
SamplesKWS2
Known GenesGPATCH8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972111
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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