A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997187



Internal ID17290139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103684479..103758178hg38UCSC Ensembl
Outerchr1:104227101..104300800hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3873700
hg1973700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950527
Supporting Variants
SamplesBILGI_BIOE
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997187
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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