A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249108



Internal ID21303732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73625410..73648671hg38UCSC Ensembl
Outerchr2:73622057..73648672hg38UCSC Ensembl
Innerchr2:73852537..73875798hg19UCSC Ensembl
Outerchr2:73849184..73875799hg19UCSC Ensembl
Innerchr2:73706045..73729306hg18UCSC Ensembl
Outerchr2:73702692..73729307hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3826616
hg1926616
hg1826616
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170242
Supporting Variants
SamplesMLY_8
Known GenesALMS1P, NAT8
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249108
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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