A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv305



Internal ID15544996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:171544745..171578192hg38UCSC Ensembl
Outerchr1:171513884..171547331hg19UCSC Ensembl
Outerchr1:169780508..169813955hg18UCSC Ensembl
Outerchr1:168245542..168278989hg17UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg387552
hg197552
hg187552
hg177552
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3498
Supporting Variants
SamplesNA19240
Known GenesPRRC2C
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)nssv305
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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