A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428421



Internal ID5948022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16764333..17483981hg19UCSC Ensembl
Innerchr1:16636920..17356568hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv454276, nssv454365, nssv454343, nssv454332, nssv454476, nssv454454, nssv454354, nssv454521, nssv454265, nssv454498, nssv454321, nssv454398, nssv454432, nssv454310, nssv454443, nssv454509, nssv454376, nssv454410, nssv454299, nssv454421, nssv454465, nssv454387, nssv454487
SamplesHGDP00450, HGDP00463, HGDP00984, NA19257, NA19147, HGDP00476, HGDP00462, HGDP01093, HGDP01094, NA19096, NA18916, NA19181, HGDP00467, NA18498, HGDP00986, HGDP01088, HGDP01086, NA19225, HGDP00460, HGDP00449, HGDP00472
Known GenesATP13A2, CROCC, CROCCP2, CROCCP3, ESPNP, MFAP2, MIR3675, MST1P2, MST1P9, NBPF1, NECAP2, PADI2, SDHB
Method
AnalysisCNVRs were generated by merging all individual human CNV calls.
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry et al 2008b
Pubmed ID18775914
Accession Number(s)nsv428421
Frequency
Sample Size62
Observed Gain17
Observed Loss6
Observed Complex0
Frequencyn/a


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