A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000981



Internal ID19194875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4933865..4933950hg38UCSC Ensembl
Outerchr17:4837160..4837245hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149679
Supporting Variants
SamplesKWB1
Known GenesGP1BA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000981
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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