A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003078



Internal ID17296030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:176156673..176165472hg38UCSC Ensembl
Outerchr2:177021401..177030200hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg388800
hg198800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953525
Supporting Variants
SamplesBILGI_BIOE
Known GenesHOXD3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003078
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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