A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1671908



Internal ID15501728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248626178..248627128hg38UCSC Ensembl
Innerchr1:248789479..248790429hg19UCSC Ensembl
Innerchr1:246856102..246857052hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38951
hg19951
hg18951
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442999
Supporting Variants
SamplesNA01814
Known GenesOR2T11
MethodMLPA
AnalysisWe used MLPA to identify presumed duplications as compared to a 0x00E20x20AC0x02DC0x00E20x20AC0x02DCnormal0x00E20x20AC0x21220x00E20x20AC0x2122 diploid genome.
PlatformNot reported
Comments
ReferenceYoung_et_al_2008
Pubmed ID18674749
Accession Number(s)nssv1671908
Frequency
Sample Size52
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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