A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2176



Internal ID15200053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103584383..103717861hg38UCSC Ensembl
Outerchr1:104127005..104260483hg19UCSC Ensembl
Outerchr1:103928528..104062006hg18UCSC Ensembl
Outerchr1:103839026..103972504hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38133479
hg19133479
hg18133479
hg17133479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9850, nssv10159
SamplesNA18507, NA18956
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)nsv2176
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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