A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428421



Internal ID18278185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16437838..17157486hg38UCSC Ensembl
Innerchr1:16764333..17483981hg19UCSC Ensembl
Innerchr1:16636920..17356568hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38719649
hg19719649
hg18719649
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454387, nssv454310, nssv454376, nssv454332, nssv454454, nssv454443, nssv454421, nssv454487, nssv454354, nssv454265, nssv454276, nssv454498, nssv454465, nssv454410, nssv454343, nssv454521, nssv454299, nssv454321, nssv454509, nssv454476, nssv454398, nssv454432, nssv454365
SamplesHGDP00462, HGDP01093, HGDP00463, HGDP01088, NA18916, NA18498, HGDP00476, HGDP00460, HGDP00450, HGDP00986, HGDP00467, NA19181, NA19257, NA19225, NA19147, HGDP01094, HGDP00984, HGDP00472, NA19096, HGDP01086, HGDP00449
Known GenesATP13A2, CROCC, CROCCP2, CROCCP3, ESPNP, LOC729574, MFAP2, MIR3675, MST1L, MST1P2, NBPF1, NECAP2, PADI2, SDHB
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
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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