A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000270



Internal ID17293222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20871088..20881587hg38UCSC Ensembl
Outerchr17:20774401..20784900hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3810500
hg1910500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953851
Supporting Variants
SamplesBILGI_BIOE
Known GenesCCDC144NL, LOC440416
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000270
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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