A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510



Internal ID15203189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:37814377..37879932hg38UCSC Ensembl
Outerchr1:38280049..38345604hg19UCSC Ensembl
Outerchr1:38052636..38118191hg18UCSC Ensembl
Outerchr1:37949142..38014697hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg385676
hg195676
hg185676
hg175676
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5491, nssv1091
SamplesNA19240, NA19129
Known GenesINPP5B, MTF1
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)nsv510
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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