A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000917



Internal ID17293869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234495757..234497556hg38UCSC Ensembl
Outerchr2:235404401..235406200hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953207
Supporting Variants
SamplesBILGI_BIOE
Known GenesARL4C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000917
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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