A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4922



Internal ID15202994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:95202841..95219722hg38UCSC Ensembl
Outerchr5:94538545..94555426hg19UCSC Ensembl
Outerchr5:94564301..94581182hg18UCSC Ensembl
Outerchr5:94564301..94581182hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3816551
hg1916551
hg1816551
hg1716551
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9672, nssv481, nssv6012, nssv10464, nssv3370
SamplesNA18507, NA18956, NA12156, NA12878, NA19240
Known GenesMCTP1
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)nsv4922
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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