A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000301



Internal ID16946567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226973700..226988299hg38UCSC Ensembl
Outerchr1:227161401..227176000hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3814600
hg1914600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952131
Supporting Variants
SamplesBILGI_BIOE
Known GenesADCK3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000301
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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