A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4387



Internal ID15202405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210629554..210676969hg38UCSC Ensembl
Outerchr1:210802898..210850311hg19UCSC Ensembl
Outerchr1:208869521..208916934hg18UCSC Ensembl
Outerchr1:207191293..207238706hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg386894
hg196894
hg186894
hg176894
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3728, nssv2770, nssv6133
SamplesNA12156, NA12878, NA18555
Known GenesHHAT
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)nsv4387
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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