A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5879



Internal ID15204046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102450321..102747356hg38UCSC Ensembl
Outerchr7:102090768..102387803hg19UCSC Ensembl
Outerchr7:101877773..102175039hg18UCSC Ensembl
Outerchr7:101684488..101981754hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38297036
hg19297036
hg18297267
hg17297267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10571, nssv5010, nssv2679, nssv10572, nssv6159, nssv9722, nssv2680, nssv6158, nssv668, nssv1679, nssv9723, nssv3562, nssv11157, nssv3563, nssv9444, nssv9910, nssv5011, nssv670
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA18517, NA19240, NA19129
Known GenesALKBH4, LRWD1, MIR4467, MIR5090, ORAI2, POLR2J, POLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
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)nsv5879
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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