A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7557



Internal ID15552578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:28337122..28368999hg38UCSC Ensembl
Outerchr1:28663633..28695510hg19UCSC Ensembl
Outerchr1:28536220..28568097hg18UCSC Ensembl
Outerchr1:28347775..28379652hg17UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg387562
hg197562
hg187562
hg177562
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1003, nssv2893, nssv6496, nssv4043
SamplesNA12156, NA12878, NA18555, NA19240
Known Genes
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)nsv7557
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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