A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997151



Internal ID16943417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53061429..53136228hg38UCSC Ensembl
Outerchr1:53527101..53601900hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3874800
hg1974800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950739
Supporting Variants
SamplesBILGI_BIOE
Known GenesPODN, SLC1A7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997151
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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