A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9850



Internal ID15193234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103591043..103717861hg38UCSC Ensembl
Outerchr1:104133665..104260483hg19UCSC Ensembl
Outerchr1:103935188..104062006hg18UCSC Ensembl
Outerchr1:103845686..103972504hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38126819
hg19126819
hg18126819
hg17126819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2176
Supporting Variants
SamplesNA18507
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv9850
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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