A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992807



Internal ID19245534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20864287..20879387hg38UCSC Ensembl
Outerchr17:20767600..20782700hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3815101
hg1915101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141302
Supporting Variants
SamplesKWS2
Known GenesCCDC144NL, LOC440416
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992807
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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