A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003647



Internal ID19194888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20863986..20878887hg38UCSC Ensembl
Outerchr17:20767299..20782200hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3814902
hg1914902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150352
Supporting Variants
SamplesKWB1
Known GenesCCDC144NL, LOC440416
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003647
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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