A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977



Internal ID15206312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:57870064..57902250hg38UCSC Ensembl
Outerchr1:58335736..58367922hg19UCSC Ensembl
Outerchr1:58108324..58140510hg18UCSC Ensembl
Outerchr1:58047757..58079943hg17UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg386331
hg196331
hg186331
hg176331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4236, nssv9983
SamplesNA12878, NA18956
Known GenesDAB1
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)nsv977
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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