A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4994



Internal ID15549759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:128456979..128490196hg38UCSC Ensembl
Outerchr5:127792672..127825889hg19UCSC Ensembl
Outerchr5:127820571..127853788hg18UCSC Ensembl
Outerchr5:127820571..127853788hg17UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg386224
hg196224
hg186224
hg176224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8147
SamplesNA12156
Known GenesFBN2
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)nsv4994
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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